H78Y (p.His78Tyr) variant of OCA2 (P protein)
H78Y (p.His78Tyr) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H78Y (p.His78Tyr) variant details
- p.His78Tyr
- rs531777637
- ClinGen CA7439534
- ClinVar RCV000901113
- ClinVar RCV003940863
- Conflicting interpretations
- not provided; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.78
- MetaSVM 0.13
- CADD 16.52
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- 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)