A1035V (p.Ala1035Val) variant of NPC1 (O15118)
A1035V (p.Ala1035Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A1035V (p.Ala1035Val) variant details
- p.Ala1035Val
- rs28942107
- ClinGen CA220563
- ClinVar RCV000003106
- ClinVar RCV000790787
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.92
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking… (PMID 11479732)
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)