R8P (p.Arg8Pro) variant of KCNT1 (Q5JUK3)
R8P (p.Arg8Pro) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- gnomAD 9-135702311-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- REVEL 0.06
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available