L6V (p.Leu6Val) variant of KCNT1 (Q5JUK3)
L6V (p.Leu6Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 9-135702265-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.04
- CADD 8.20
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available