R38C (p.Arg38Cys) variant of KCNA1 (Q09470)
R38C (p.Arg38Cys) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- TOPMed rs1380141950
- gnomAD rs1380141950
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.66
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available