D37G (p.Asp37Gly) variant of NPC1 (O15118)
D37G (p.Asp37Gly) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type C1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- rs776181190
- ClinGen CA8913824
- ClinVar RCV001460913
- ClinVar RCV004749694
- Conflicting interpretations
- Niemann-Pick disease, type C1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type C1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)