S27P (p.Ser27Pro) variant of TREX1 (Three-prime repair exonuclease 1)
S27P (p.Ser27Pro) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- Ensembl rs2107255373
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 27.10
- PolyPhen-2 0.77
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available