T22M (p.Thr22Met) variant of OCA2 (P protein)
T22M (p.Thr22Met) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. 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.
T22M (p.Thr22Met) variant details
- p.Thr22Met
- rs779114740
- ClinGen CA7439601
- cosmic curated COSV10649
- ClinVar RCV002003935
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.74
- MetaSVM -0.11
- CADD 16.74
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- 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)