T50M (p.Thr50Met) variant of PIEZO2 (Q9H5I5)
T50M (p.Thr50Met) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrog. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T50M (p.Thr50Met) variant details
- p.Thr50Met
- cosmic curated COSV57435
- TOPMed rs908820221
- gnomAD rs908820221
- Uncertain significance
- Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrog
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.85
- CADD 18.87
- ClinVar: Uncertain significance (Arthrogryposis- oculomotor limitation-electroretinal anomalies s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available