P7R (p.Pro7Arg) variant of KCNT1 (Q5JUK3)
P7R (p.Pro7Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs747733979
- gnomAD 9-135702269-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.02
- CADD 13.70
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available