P50L (p.Pro50Leu) variant of NPC1 (O15118)
P50L (p.Pro50Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs1408235606
- ClinGen CA402041237
- ClinVar RCV003115666
- gnomAD rs1408235606
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.13
- 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 1.2e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)