L705V (p.Leu705Val) variant of APP (Amyloid-beta precursor protein)
L705V (p.Leu705Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebral amyloid angiopathy, APP-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L705V (p.Leu705Val) variant details
- p.Leu705Val
- rs63750921
- ClinGen CA127815
- ClinVar RCV000019731
- ClinVar RCV000084565
- Likely pathogenic
- Cerebral amyloid angiopathy, APP-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cerebral amyloid angiopathy, APP-related)
- EBI: Pathogenic (in CAA-APP)
- UniProt: Pathogenic (in CAA-APP)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. (PMID 16178030)
- Cited in: Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. (PMID 19225789)