E12E (p.Glu12Glu) variant of KCNT1 (Q5JUK3)
E12E (p.Glu12Glu) in KCNT1 (Q5JUK3) is a synonymous 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.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs1564304686
- gnomAD 9-135702306-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.19
- MetaLR 0.31
- MetaSVM -0.73
- CADD 3.58
- PolyPhen-2 0.35
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available