V33D (p.Val33Asp) variant of PIEZO2 (Q9H5I5)
V33D (p.Val33Asp) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V33D (p.Val33Asp) variant details
- p.Val33Asp
- rs1279623406
- gnomAD 18-10666705-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 3.84
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available