M866I (p.Met866Ile) variant of NPC1 (O15118)
M866I (p.Met866Ile) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M866I (p.Met866Ile) variant details
- p.Met866Ile
- rs1019159514
- ClinGen CA297081765
- ClinVar RCV000597781
- ClinVar RCV001867940
- Uncertain significance
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.69
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)