N43S (p.Asn43Ser) variant of KCNJ11 (Q14654)
N43S (p.Asn43Ser) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- gnomAD 11-17387964-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.84
- CADD 24.00
- PolyPhen-2 0.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available