P7Q (p.Pro7Gln) variant of KCNT1 (Q5JUK3)
P7Q (p.Pro7Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- gnomAD 9-135702263-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0849
- REVEL 0.01
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available