D48V (p.Asp48Val) variant of KCNT1 (Q5JUK3)
D48V (p.Asp48Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D48V (p.Asp48Val) variant details
- p.Asp48Val
- rs762875063
- gnomAD 9-135714609-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.04
- CADD 20.80
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available