Q51H (p.Gln51His) variant of KCNT1 (Q5JUK3)
Q51H (p.Gln51His) 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.
Q51H (p.Gln51His) variant details
- p.Gln51His
- gnomAD 9-135702357-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0698
- REVEL 0.04
- CADD 6.85
- PolyPhen-2 0.03
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available