Q102R (p.Gln102Arg) variant of NPC2 (P61916)
Q102R (p.Gln102Arg) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2; NPC2-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q102R (p.Gln102Arg) variant details
- p.Gln102Arg
- rs930750290
- ClinGen CA263660912
- ClinVar RCV001878129
- ClinVar RCV002553534
- Uncertain significance
- Niemann-Pick disease, type C2; NPC2-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.13
- ESM-1b 0.40
- AlphaMissense 0.12
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.04
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2; NPC2-related disorder; Inborn gen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)