C35S (p.Cys35Ser) variant of KCNA1 (Q09470)
C35S (p.Cys35Ser) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
C35S (p.Cys35Ser) variant details
- p.Cys35Ser
- gnomAD 12-4911481-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.67
- MetaLR 0.80
- MetaSVM 0.56
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available