L99V (p.Leu99Val) variant of KCNJ10 (P78508)
L99V (p.Leu99Val) in KCNJ10 (P78508) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
L99V (p.Leu99Val) variant details
- p.Leu99Val
- gnomAD 1-160042238-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- MetaLR 0.40
- MetaSVM -0.63
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Literature evidence available