N41T (p.Asn41Thr) variant of KCNJ11 (Q14654)
N41T (p.Asn41Thr) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N41T (p.Asn41Thr) variant details
- p.Asn41Thr
- gnomAD 11-17387970-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available