A18T (p.Ala18Thr) variant of KCNQ4 (P56696)
A18T (p.Ala18Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 1-40784145-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.26
- MetaLR 0.78
- MetaSVM 0.32
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 6.1e-05)
- Structural context available
- Literature evidence available