P22R (p.Pro22Arg) variant of NOTCH1 (P46531)
P22R (p.Pro22Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- rs769046407
- ClinGen CA375579341
- ClinVar RCV003869791
- ExAC rs769046407
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 19.10
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available