S45P (p.Ser45Pro) variant of PIEZO2 (Q9H5I5)
S45P (p.Ser45Pro) 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.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- gnomAD 18-10666715-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 0.43
- Population evidence available
- Structural context available
- Literature evidence available