P61Q (p.Pro61Gln) variant of TREX1 (Three-prime repair exonuclease 1)
P61Q (p.Pro61Gln) 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; Aicardi-Goutieres syndrome 1; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P61Q (p.Pro61Gln) variant details
- p.Pro61Gln
- rs777034646
- ClinGen CA73932620
- ClinVar RCV000987264
- ClinVar RCV001759678
- Conflicting interpretations
- not provided; Aicardi-Goutieres syndrome 1; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Aicardi-Goutieres syndrome 1; See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)