P471L (p.Pro471Leu) variant of NPC1 (O15118)
P471L (p.Pro471Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P471L (p.Pro471Leu) variant details
- p.Pro471Leu
- rs201226297
- ClinGen CA8913470
- ClinVar RCV001916974
- ClinVar RCV004720978
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.87
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)