A76T (p.Ala76Thr) variant of KCNJ10 (P78508)
A76T (p.Ala76Thr) in KCNJ10 (P78508) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- gnomAD 1-160042307-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- MetaLR 0.51
- MetaSVM -0.13
- CADD 16.60
- PolyPhen-2 0.07
- SIFT 0.67
- Population evidence available
- Literature evidence available