T6A (p.Thr6Ala) variant of KCNJ2 (P63252)
T6A (p.Thr6Ala) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD 17-70175055-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.03
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available