V133L (p.Val133Leu) variant of NPC1 (O15118)
V133L (p.Val133Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V133L (p.Val133Leu) variant details
- p.Val133Leu
- rs2145526753
- ClinGen CA401785169
- ClinVar RCV001961286
- Ensembl rs2145526753
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.28
- CADD 6.69
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)