K38Q (p.Lys38Gln) variant of KCNJ11 (Q14654)
K38Q (p.Lys38Gln) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
K38Q (p.Lys38Gln) variant details
- p.Lys38Gln
- gnomAD 11-17387980-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.91
- CADD 26.60
- PolyPhen-2 0.63
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available