P54R (p.Pro54Arg) variant of KCNT1 (Q5JUK3)
P54R (p.Pro54Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- gnomAD 9-135714654-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.19
- MetaLR 0.20
- MetaSVM -0.90
- CADD 25.60
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available