E29K (p.Glu29Lys) variant of NOTCH1 (P46531)
E29K (p.Glu29Lys) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- gnomAD rs908111363
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available