T27A (p.Thr27Ala) variant of KCNQ4 (P56696)
T27A (p.Thr27Ala) 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, published literature, and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- gnomAD 1-40784172-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- MetaLR 0.86
- MetaSVM 0.57
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.00044)
- Structural context available
- Literature evidence available