V33A (p.Val33Ala) variant of PIEZO2 (Q9H5I5)
V33A (p.Val33Ala) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- rs2033617505
- gnomAD 18-10666744-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- ESM-1b 0.17
- AlphaMissense 0.39
- CADD 1.38
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available