V73M (p.Val73Met) variant of NPC2 (P61916)
V73M (p.Val73Met) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- rs747314957
- ClinGen CA263660967
- ClinVar RCV002995885
- TOPMed rs747314957
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 0.05
- PolyPhen-2 0.09
- SIFT 0.10
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)