Q66R (p.Gln66Arg) variant of OCA2 (P protein)
Q66R (p.Gln66Arg) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q66R (p.Gln66Arg) variant details
- p.Gln66Arg
- rs1322917049
- ClinGen CA391366581
- ClinVar RCV002706703
- ClinVar RCV002715729
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.54
- MetaSVM -0.44
- CADD 0.05
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)