G29R (p.Gly29Arg) variant of PIEZO2 (Q9H5I5)
G29R (p.Gly29Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs2033617603
- gnomAD 18-10666754-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 1.23
- Most common in the HGDP:PATHAN population (allele frequency 0.042)
- Structural context available
- Literature evidence available