R28W (p.Arg28Trp) variant of KCNJ10 (P78508)
R28W (p.Arg28Trp) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- rs780870986
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63633
- ExAC rs780870986
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available