H42Y (p.His42Tyr) variant of OPA1 (O60313)
H42Y (p.His42Tyr) in OPA1 (O60313) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs145563233
- ClinGen CA2758938
- ClinVar RCV001297119
- ClinVar RCV005443299
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.31
- CADD 16.50
- PolyPhen-2 0.06
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)