V45R (p.Val45Arg) variant of KCNT1 (Q5JUK3)
V45R (p.Val45Arg) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V45R (p.Val45Arg) variant details
- p.Val45Arg
- rs1835063072
- gnomAD 9-135702287-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 17.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available