A8S (p.Ala8Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A8S (p.Ala8Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- Ensembl rs1235553614
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.17
- MetaSVM -0.87
- CADD 16.10
- Population evidence available
- Structural context available