T57I (p.Thr57Ile) variant of OPA1 (O60313)
T57I (p.Thr57Ile) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- rs549213088
- ClinGen CA90567053
- ClinVar RCV002586640
- ClinVar RCV002586641
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.21
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.37)
- 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)