V40M (p.Val40Met) variant of KCNA1 (Q09470)
V40M (p.Val40Met) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- ExAC rs759476808
- gnomAD rs759476808
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.69
- CADD 29.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available