S45A (p.Ser45Ala) variant of PIEZO2 (Q9H5I5)
S45A (p.Ser45Ala) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S45A (p.Ser45Ala) variant details
- p.Ser45Ala
- rs55786708
- gnomAD 18-10666733-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.29
- Most common in the Ashkenazi Jewish population (allele frequency 0.0058)
- Structural context available
- Literature evidence available