G54V (p.Gly54Val) variant of PIEZO2 (Q9H5I5)
G54V (p.Gly54Val) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- Ensembl rs913165782
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.62
- MetaSVM 0.24
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available