A43T (p.Ala43Thr) variant of TREX1 (Three-prime repair exonuclease 1)
A43T (p.Ala43Thr) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Aicardi-Goutieres syndrome 1; Chilblain lupus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs780414238
- ClinGen CA2376574
- ClinVar RCV002020058
- ExAC rs780414238
- Uncertain significance
- Inborn genetic diseases; Aicardi-Goutieres syndrome 1; Chilblain lupus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 25.50
- PolyPhen-2 0.60
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Aicardi-Goutieres syndrome 1; Chilblain)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)