H93R (p.His93Arg) variant of KCNJ10 (P78508)
H93R (p.His93Arg) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
H93R (p.His93Arg) variant details
- p.His93Arg
- rs1377862008
- ClinGen CA343229007
- ClinVar RCV001328935
- ClinVar RCV004770059
- Uncertain significance
- not provided; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.55
- MetaLR 0.75
- MetaSVM 0.42
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.39
- ClinVar: Uncertain significance (not provided; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available