A21T (p.Ala21Thr) variant of KCNQ4 (P56696)
A21T (p.Ala21Thr) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD 1-40784154-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.26
- MetaLR 0.77
- MetaSVM 0.26
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available