L11V (p.Leu11Val) variant of NPC1 (O15118)
L11V (p.Leu11Val) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs1364471701
- ClinGen CA402041514
- ClinVar RCV003058866
- TOPMed rs1364471701
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.30
- CADD 19.50
- PolyPhen-2 0.07
- SIFT 0.14
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)