M1001V (p.Met1001Val) variant of NPC1 (O15118)
M1001V (p.Met1001Val) 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; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M1001V (p.Met1001Val) variant details
- p.Met1001Val
- rs2058666849
- ClinGen CA401792165
- ClinVar RCV001327013
- ClinVar RCV004719134
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.63
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C1; Niemann-Pick diseas)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)