C36W (p.Cys36Trp) variant of KCNA1 (Q09470)
C36W (p.Cys36Trp) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C36W (p.Cys36Trp) variant details
- p.Cys36Trp
- gnomAD 12-4911486-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.68
- MetaLR 0.85
- MetaSVM 0.62
- CADD 23.40
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available