G13E (p.Gly13Glu) variant of KCNT1 (Q5JUK3)
G13E (p.Gly13Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- rs1003586835
- gnomAD 9-135702290-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.01
- CADD 0.82
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available