D48* (p.Asp48Ter) variant of KCNT1 (Q5JUK3)
D48* (p.Asp48Ter) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D48* (p.Asp48Ter) variant details
- p.Asp48Ter
- gnomAD 9-135702265-C-CT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available