P60S (p.Pro60Ser) variant of NOTCH1 (P46531)
P60S (p.Pro60Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- ExAC rs755775484
- TOPMed rs755775484
- gnomAD rs755775484
- Benign
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.54
- ClinVar: Benign (Adams-Oliver syndrome 5)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available