T51M (p.Thr51Met) variant of PIEZO2 (Q9H5I5)
T51M (p.Thr51Met) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arthrogryposis, distal, with impaired proprioception and touch; not specified; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T51M (p.Thr51Met) variant details
- p.Thr51Met
- rs371432372
- ClinGen CA8892877
- cosmic curated COSV57431
- ClinVar RCV000660458
- Conflicting interpretations
- Arthrogryposis, distal, with impaired proprioception and touch; not specified; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.45
- MetaSVM -0.12
- CADD 26.20
- ClinVar: Conflicting classifications of pathogenicity (Arthrogryposis, distal, with impaired proprioception and touch;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00078)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)