M1V (p.Met1Val) variant of NPC2 (P61916)
M1V (p.Met1Val) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1555346369
- ClinGen CA390377022
- ClinVar RCV000670039
- Likely pathogenic
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)