G29V (p.Gly29Val) variant of PIEZO2 (Q9H5I5)
G29V (p.Gly29Val) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Arthrogryposis, distal, with impaired proprioception an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- rs772178114
- ClinGen CA8892881
- cosmic curated COSV57450
- ClinVar RCV001767399
- Uncertain significance
- Inborn genetic diseases; Arthrogryposis, distal, with impaired proprioception an
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.45
- MetaSVM -0.29
- CADD 25.90
- ClinVar: Uncertain significance (Inborn genetic diseases; Arthrogryposis, distal, with impaired p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- 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)