G49C (p.Gly49Cys) variant of NOTCH1 (P46531)
G49C (p.Gly49Cys) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G49C (p.Gly49Cys) variant details
- p.Gly49Cys
- Ensembl rs2133379880
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 14.10
- PolyPhen-2 0.40
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available