P3S (p.Pro3Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P3S (p.Pro3Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- TOPMed rs1908115238
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.11
- MetaSVM -1.06
- CADD 10.40
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available