K25R (p.Lys25Arg) variant of NPC2 (P61916)
K25R (p.Lys25Arg) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
K25R (p.Lys25Arg) variant details
- p.Lys25Arg
- rs2506115373
- ClinGen CA390376646
- ClinVar RCV003288435
- ClinVar RCV006472282
- Uncertain significance
- Inborn genetic diseases; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- ESM-1b 0.02
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)