H74Q (p.His74Gln) variant of PIEZO2 (Q9H5I5)
H74Q (p.His74Gln) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H74Q (p.His74Gln) variant details
- p.His74Gln
- ExAC rs778169191
- gnomAD rs778169191
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.19
- MetaSVM -0.88
- CADD 19.72
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available