T32M (p.Thr32Met) variant of TREX1 (Three-prime repair exonuclease 1)
T32M (p.Thr32Met) 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 not provided; not specified; Aicardi-Goutieres syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T32M (p.Thr32Met) variant details
- p.Thr32Met
- rs755138065
- ClinGen CA2376567
- ClinVar RCV001317878
- ClinVar RCV001824950
- Uncertain significance
- not provided; not specified; Aicardi-Goutieres syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; not specified; Aicardi-Goutieres syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)