Y27H (p.Tyr27His) variant of PIEZO2 (Q9H5I5)
Y27H (p.Tyr27His) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
Y27H (p.Tyr27His) variant details
- p.Tyr27His
- ExAC rs776564753
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.53
- ESM-1b 0.31
- AlphaMissense 0.75
- MetaLR 0.36
- MetaSVM -0.47
- CADD 27.40
- Structural context available