p.Phe75 Thr78del variant of KCNJ10 (P78508)
p.Phe75 Thr78del in KCNJ10 (P78508) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
p.Phe75 Thr78del variant details
- gnomAD 1-160042299-TGTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 19.20
- Population evidence available
- Literature evidence available