C35G (p.Cys35Gly) variant of KCNA1 (Q09470)
C35G (p.Cys35Gly) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C35G (p.Cys35Gly) variant details
- p.Cys35Gly
- gnomAD 12-4911481-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.75
- MetaLR 0.82
- MetaSVM 0.66
- CADD 23.10
- PolyPhen-2 0.21
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available