S65N (p.Ser65Asn) variant of NOTCH1 (P46531)
S65N (p.Ser65Asn) 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.
S65N (p.Ser65Asn) variant details
- p.Ser65Asn
- Ensembl rs2133379686
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available