C35Y (p.Cys35Tyr) variant of KCNA1 (Q09470)
C35Y (p.Cys35Tyr) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- gnomAD 12-4911482-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.75
- MetaLR 0.87
- MetaSVM 0.86
- CADD 24.40
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available