A91E (p.Ala91Glu) variant of PIEZO2 (Q9H5I5)
A91E (p.Ala91Glu) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A91E (p.Ala91Glu) variant details
- p.Ala91Glu
- rs562793
- gnomAD 18-10666603-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.24
- Population evidence available
- Structural context available
- Literature evidence available