Y8C (p.Tyr8Cys) variant of KCNJ10 (P78508)
Y8C (p.Tyr8Cys) in KCNJ10 (P78508) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- ExAC rs765568974
- gnomAD rs765568974
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available