D48G (p.Asp48Gly) variant of KCNT1 (Q5JUK3)
D48G (p.Asp48Gly) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- gnomAD 9-135702347-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.01
- CADD 21.00
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available