Y11C (p.Tyr11Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
Y11C (p.Tyr11Cys) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y11C (p.Tyr11Cys) variant details
- p.Tyr11Cys
- gnomAD rs1188359443
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.38
- MetaSVM -0.39
- CADD 23.70
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available