I80T (p.Ile80Thr) variant of ABCC6 (O95255)
I80T (p.Ile80Thr) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
I80T (p.Ile80Thr) variant details
- p.Ile80Thr
- rs754156749
- ClinGen CA7926662
- ClinVar RCV002911856
- ExAC rs754156749
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.14
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.9e-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)