A21S (p.Ala21Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A21S (p.Ala21Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD rs1225431053
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.34
- MetaSVM -0.50
- CADD 19.90
- Population evidence available
- Structural context available