A91H (p.Ala91His) variant of PIEZO2 (Q9H5I5)
A91H (p.Ala91His) in PIEZO2 (Q9H5I5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A91H (p.Ala91His) variant details
- p.Ala91His
- gnomAD 18-10666603-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0837
- CADD 0.47
- Population evidence available
- Structural context available
- Literature evidence available