P60S (p.Pro60Ser) variant of TREX1 (Three-prime repair exonuclease 1)
P60S (p.Pro60Ser) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- rs768962835
- ClinGen CA2376589
- ClinVar RCV003801901
- ClinVar RCV004818417
- Uncertain significance
- Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cereb
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 13.80
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Uncertain significance (Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Aicardi-Goutières Syndrome. (PMID 20301648)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)