A4D (p.Ala4Asp) variant of KCNQ4 (P56696)
A4D (p.Ala4Asp) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- Ensembl rs1647180092
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.30
- MetaLR 0.79
- MetaSVM 0.35
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available