P55L (p.Pro55Leu) variant of NOTCH1 (P46531)
P55L (p.Pro55Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs1286892980
- ClinGen CA375573184
- ClinVar RCV003121238
- gnomAD rs1286892980
- Benign
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- MetaLR 0.04
- MetaSVM -1.02
- CADD 7.60
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.34
- ClinVar: Benign (Adams-Oliver syndrome 5)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available