Q51R (p.Gln51Arg) variant of KCNT1 (Q5JUK3)
Q51R (p.Gln51Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- rs1214788912
- gnomAD 9-135702356-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0541
- REVEL 0.04
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available