G8D (p.Gly8Asp) variant of PIEZO2 (Q9H5I5)
G8D (p.Gly8Asp) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- rs768145082
- gnomAD 18-10672707-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- ESM-1b 0.28
- AlphaMissense 0.96
- CADD 5.80
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available