R3C (p.Arg3Cys) variant of KCNQ5 (Q9NR82)
R3C (p.Arg3Cys) in KCNQ5 (Q9NR82) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- 1000Genomes rs549110435
- TOPMed rs549110435
- gnomAD rs549110435
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available