V89I (p.Val89Ile) variant of KCNJ10 (P78508)
V89I (p.Val89Ile) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
V89I (p.Val89Ile) variant details
- p.Val89Ile
- rs2525430906
- ClinGen CA343229106
- ClinVar RCV003055339
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 15.20
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available