K69E (p.Lys69Glu) variant of NOTCH1 (P46531)
K69E (p.Lys69Glu) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- Ensembl rs2133379644
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 18.20
- PolyPhen-2 0.34
- SIFT 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available