S31L (p.Ser31Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S31L (p.Ser31Leu) 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 0.70 / 1. The record also includes population frequency data and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- TOPMed rs1906268437
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.65
- MetaSVM 0.40
- CADD 25.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available