T78P (p.Thr78Pro) variant of KCNJ10 (P78508)
T78P (p.Thr78Pro) in KCNJ10 (P78508) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
T78P (p.Thr78Pro) variant details
- p.Thr78Pro
- gnomAD 1-160042234-TCCAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 29.10
- Population evidence available
- Literature evidence available