A108T (p.Ala108Thr) variant of ERCC2 (P18074)
A108T (p.Ala108Thr) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A108T (p.Ala108Thr) variant details
- p.Ala108Thr
- rs771447173
- ClinGen CA9513830
- ClinVar RCV002602683
- ClinVar RCV003161882
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.31
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)