P45S (p.Pro45Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P45S (p.Pro45Ser) 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 0.19 / 1. The record also includes population frequency data and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- gnomAD rs1402344272
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.22
- MetaSVM -0.96
- CADD 10.20
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available