A25E (p.Ala25Glu) variant of KCNQ4 (P56696)
A25E (p.Ala25Glu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- Ensembl rs1647180800
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.37
- MetaLR 0.88
- MetaSVM 0.69
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 5.5e-05)
- Structural context available