V45A (p.Val45Ala) variant of KCNT1 (Q5JUK3)
V45A (p.Val45Ala) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs764111643
- gnomAD 9-135702296-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.03
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available