D48H (p.Asp48His) variant of KCNT1 (Q5JUK3)
D48H (p.Asp48His) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D48H (p.Asp48His) variant details
- p.Asp48His
- gnomAD 9-135702271-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.08
- CADD 14.30
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available