S45F (p.Ser45Phe) variant of PIEZO2 (Q9H5I5)
S45F (p.Ser45Phe) in PIEZO2 (Q9H5I5) 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, published literature, and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- rs55705918
- gnomAD 18-10666732-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 2.54
- Most common in the Ashkenazi Jewish population (allele frequency 0.0058)
- Structural context available
- Literature evidence available