W17C (p.Trp17Cys) variant of KCNQ5 (Q9NR82)
W17C (p.Trp17Cys) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
W17C (p.Trp17Cys) variant details
- p.Trp17Cys
- rs1265096046
- ClinGen CA364824051
- ClinVar RCV002076277
- ClinVar RCV004744295
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.70
- CADD 26.30
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available