P42S (p.Pro42Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P42S (p.Pro42Ser) 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 0.68 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- gnomAD rs1333044023
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.61
- MetaSVM 0.28
- CADD 25.70
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available