P48S (p.Pro48Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P48S (p.Pro48Ser) 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; Chilblain lupus 1; Retinal vasculopathy with cereb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- rs754776272
- cosmic curated COSV10517
- ClinGen CA2376577
- cosmic curated COSV99604
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 1.93
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. (PMID 31536185)