P68L (p.Pro68Leu) variant of NOTCH3 (Q9UM47)
P68L (p.Pro68Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; NOTCH3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- rs146810942
- ClinGen CA9263952
- ClinVar RCV000286129
- ClinVar RCV000516451
- Conflicting interpretations
- not specified; not provided; NOTCH3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.23
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; NOTCH3-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0017)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)