F25S (p.Phe25Ser) variant of PIEZO2 (Q9H5I5)
F25S (p.Phe25Ser) 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.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- rs1376238292
- gnomAD 18-10666810-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- ESM-1b 0.33
- AlphaMissense 0.85
- CADD 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available