A4G (p.Ala4Gly) variant of KCNQ4 (P56696)
A4G (p.Ala4Gly) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- gnomAD 1-40784104-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.30
- MetaLR 0.74
- MetaSVM 0.24
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Literature evidence available