D48E (p.Asp48Glu) variant of KCNT1 (Q5JUK3)
D48E (p.Asp48Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- gnomAD 9-135702273-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- CADD 18.30
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available