I685T (p.Ile685Thr) variant of NPC1 (O15118)
I685T (p.Ile685Thr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I685T (p.Ile685Thr) variant details
- p.Ile685Thr
- rs483352888
- ClinGen CA269823
- ClinVar RCV000119330
- ClinVar RCV004689613
- Likely pathogenic
- Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.99
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)