R62P (p.Arg62Pro) variant of TREX1 (Three-prime repair exonuclease 1)
R62P (p.Arg62Pro) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R62P (p.Arg62Pro) variant details
- p.Arg62Pro
- 1000Genomes rs547752029
- ExAC rs547752029
- TOPMed rs547752029
- gnomAD rs547752029
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available