T39A (p.Thr39Ala) variant of KCNJ2 (P63252)
T39A (p.Thr39Ala) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T39A (p.Thr39Ala) variant details
- p.Thr39Ala
- gnomAD 17-70175154-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.97
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available