A4T (p.Ala4Thr) variant of KCNQ4 (P56696)
A4T (p.Ala4Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- 1000Genomes rs2148830514
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- MetaLR 0.80
- MetaSVM 0.37
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available