T375A (p.Thr375Ala) variant of NPC1 (O15118)
T375A (p.Thr375Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T375A (p.Thr375Ala) variant details
- p.Thr375Ala
- rs746372120
- ClinGen CA8913531
- ClinVar RCV001380115
- ExAC rs746372120
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)