S65G (p.Ser65Gly) variant of NOTCH1 (P46531)
S65G (p.Ser65Gly) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S65G (p.Ser65Gly) variant details
- p.Ser65Gly
- Ensembl rs2133379689
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 22.40
- PolyPhen-2 0.19
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available