H55R (p.His55Arg) variant of PIEZO2 (Q9H5I5)
H55R (p.His55Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- rs1045804928
- gnomAD 18-10666741-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 1.14
- Population evidence available
- Structural context available
- Literature evidence available