T1205K (p.Thr1205Lys) variant of NPC1 (O15118)
T1205K (p.Thr1205Lys) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
T1205K (p.Thr1205Lys) variant details
- p.Thr1205Lys
- rs758902805
- ClinGen CA273905
- ClinVar RCV000169061
- ClinVar RCV000255516
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.97
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.08
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)