R16S (p.Arg16Ser) variant of KCNJ11 (Q14654)
R16S (p.Arg16Ser) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- gnomAD 11-17388046-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.40
- CADD 23.70
- PolyPhen-2 0.27
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available