A1151T (p.Ala1151Thr) variant of NPC1 (O15118)
A1151T (p.Ala1151Thr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A1151T (p.Ala1151Thr) variant details
- p.Ala1151Thr
- rs765729815
- ClinGen CA8912773
- ClinVar RCV000689227
- ClinVar RCV000734932
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C; Niemann-Pick disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)