V40D (p.Val40Asp) variant of KCNA1 (Q09470)
V40D (p.Val40Asp) in KCNA1 (Q09470) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V40D (p.Val40Asp) variant details
- p.Val40Asp
- gnomAD 12-4911496-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available