D48T (p.Asp48Thr) variant of KCNT1 (Q5JUK3)
D48T (p.Asp48Thr) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D48T (p.Asp48Thr) variant details
- p.Asp48Thr
- gnomAD 9-135714588-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 0.12
- Population evidence available
- Structural context available
- Literature evidence available