S63T (p.Ser63Thr) variant of OPA1 (O60313)
S63T (p.Ser63Thr) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S63T (p.Ser63Thr) variant details
- p.Ser63Thr
- rs777179811
- ClinGen CA2758947
- ClinVar RCV001509224
- ClinVar RCV005453309
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- 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)