G17S (p.Gly17Ser) variant of KCNA1 (Q09470)
G17S (p.Gly17Ser) 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, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- gnomAD 12-4911427-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.37
- MetaLR 0.77
- MetaSVM 0.38
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available