G49D (p.Gly49Asp) variant of NOTCH1 (P46531)
G49D (p.Gly49Asp) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- Ensembl rs2133379875
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 10.10
- PolyPhen-2 0.05
- SIFT 0.65
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available