M1V (p.Met1Val) variant of TREX1 (Three-prime repair exonuclease 1)
M1V (p.Met1Val) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Systemic lupus erythematosus; Aicardi-Goutieres syndrome 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs761165865
- ClinGen CA2376541
- ClinVar RCV001198990
- ClinVar RCV001839030
- Conflicting interpretations
- not provided; Systemic lupus erythematosus; Aicardi-Goutieres syndrome 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Systemic lupus erythematosus; Aicardi-Goutieres sy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)