S28G (p.Ser28Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S28G (p.Ser28Gly) 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.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD rs1402955997
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.21
- ESM-1b 0.47
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -0.87
- CADD 22.40
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available