V64A (p.Val64Ala) variant of TREX1 (Three-prime repair exonuclease 1)
V64A (p.Val64Ala) 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 Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- rs763056226
- ClinGen CA2376595
- ClinVar RCV001048363
- ExAC rs763056226
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalop
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.08
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)