R8H (p.Arg8His) variant of KCNT1 (Q5JUK3)
R8H (p.Arg8His) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R8H (p.Arg8His) variant details
- p.Arg8His
- rs753714293
- gnomAD 9-135702311-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0737
- REVEL 0.02
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available