G49S (p.Gly49Ser) variant of NOTCH1 (P46531)
G49S (p.Gly49Ser) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- Ensembl rs2133379880
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.37
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available