E85Q (p.Glu85Gln) variant of PIEZO2 (Q9H5I5)
E85Q (p.Glu85Gln) 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.
E85Q (p.Glu85Gln) variant details
- p.Glu85Gln
- rs115504680
- gnomAD 18-10666634-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 0.70
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available