D48D (p.Asp48Asp) variant of KCNT1 (Q5JUK3)
D48D (p.Asp48Asp) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
D48D (p.Asp48Asp) variant details
- p.Asp48Asp
- rs771669111
- gnomAD 9-135702273-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available