P67L (p.Pro67Leu) variant of NOTCH1 (P46531)
P67L (p.Pro67Leu) 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 0.45 / 1. The record also includes structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs1843418088
- ClinGen CA375573081
- ClinVar RCV003586565
- Ensembl rs1843418088
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- MetaLR 0.40
- MetaSVM -0.27
- PolyPhen-2 0.98
- SIFT 0.21
- MutPred 0.75
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available