V39M (p.Val39Met) variant of NPC2 (P61916)
V39M (p.Val39Met) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs80358261
- ClinGen CA340794
- cosmic curated COSV10458
- ClinVar RCV000009004
- Uncertain significance
- not provided; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C2)
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. (PMID 12447927)
- Cited in: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally… (PMID 15937921)