K34T (p.Lys34Thr) variant of KCNJ2 (P63252)
K34T (p.Lys34Thr) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- gnomAD 17-70175140-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.54
- MetaLR 0.61
- MetaSVM 0.18
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available