A25G (p.Ala25Gly) variant of KCNQ4 (P56696)
A25G (p.Ala25Gly) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- gnomAD 1-40784167-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.30
- MetaLR 0.81
- MetaSVM 0.47
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available