D712N (p.Asp712Asn) variant of NPC1 (O15118)
D712N (p.Asp712Asn) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D712N (p.Asp712Asn) variant details
- p.Asp712Asn
- rs776682510
- ClinGen CA8913196
- ClinVar RCV003089602
- ExAC rs776682510
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.58
- CADD 24.90
- PolyPhen-2 0.44
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)