V45G (p.Val45Gly) variant of KCNT1 (Q5JUK3)
V45G (p.Val45Gly) 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.
V45G (p.Val45Gly) variant details
- p.Val45Gly
- gnomAD 9-135702296-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0909
- REVEL 0.03
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available