R2P (p.Arg2Pro) variant of NPC2 (P61916)
R2P (p.Arg2Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- rs1471655370
- ClinGen CA390377003
- ClinVar RCV002804077
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.55
- ESM-1b 0.54
- AlphaMissense 0.20
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)