T112I (p.Thr112Ile) variant of NPC1 (O15118)
T112I (p.Thr112Ile) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T112I (p.Thr112Ile) variant details
- p.Thr112Ile
- rs2511341460
- ClinGen CA401785662
- ClinVar RCV002295685
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- 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 9e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)