R53K (p.Arg53Lys) variant of OCA2 (P protein)
R53K (p.Arg53Lys) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R53K (p.Arg53Lys) variant details
- p.Arg53Lys
- rs1034863880
- ClinGen CA7439563
- ClinVar RCV002010908
- ClinVar RCV005455496
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.44
- MetaSVM -0.53
- CADD 0.86
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)