P67S (p.Pro67Ser) variant of NOTCH1 (P46531)
P67S (p.Pro67Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- rs2133379665
- ClinGen CA375573086
- ClinVar RCV003055681
- Ensembl rs2133379665
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 23.60
- PolyPhen-2 0.64
- SIFT 0.06
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available