V133G (p.Val133Gly) variant of NPC1 (O15118)
V133G (p.Val133Gly) in NPC1 (O15118) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V133G (p.Val133Gly) variant details
- p.Val133Gly
- rs375039992
- ClinGen CA8913750
- ClinVar RCV000595676
- ClinVar RCV001854086
- Uncertain significance
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.26
- CADD 9.09
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)