R175W (p.Arg175Trp) variant of KCNJ10 (P78508)
R175W (p.Arg175Trp) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R175W (p.Arg175Trp) variant details
- p.Arg175Trp
- ExAC rs755133855
- TOPMed rs755133855
- gnomAD rs755133855
- Likely pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (EAST syndrome)
- UniProt: Likely pathogenic (in SESAMES)
- Population evidence available
- Structural context available