V35M (p.Val35Met) variant of KCNA2 (P16389)
V35M (p.Val35Met) in KCNA2 (P16389) 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 and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- cosmic curated COSV60369
- ExAC rs762125530
- gnomAD rs762125530
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.78
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available