H74R (p.His74Arg) variant of PIEZO2 (Q9H5I5)
H74R (p.His74Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H74R (p.His74Arg) variant details
- p.His74Arg
- ExAC rs751925471
- TOPMed rs751925471
- gnomAD rs751925471
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.42
- MetaSVM -0.17
- CADD 23.10
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available