D100G (p.Asp100Gly) variant of KCNJ10 (P78508)
D100G (p.Asp100Gly) in KCNJ10 (P78508) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- gnomAD 1-160042234-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- MetaLR 0.40
- MetaSVM -0.68
- CADD 8.86
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Literature evidence available