S50F (p.Ser50Phe) variant of TREX1 (Three-prime repair exonuclease 1)
S50F (p.Ser50Phe) in TREX1 (Three-prime repair exonuclease 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- cosmic curated COSV99062
- Ensembl rs1560111684
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 16.60
- PolyPhen-2 0.47
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available