P42A (p.Pro42Ala) variant of PIEZO2 (Q9H5I5)
P42A (p.Pro42Ala) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- rs1270080972
- gnomAD 18-10666769-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 1.14
- Population evidence available
- Structural context available
- Literature evidence available