P58H (p.Pro58His) variant of TREX1 (Three-prime repair exonuclease 1)
P58H (p.Pro58His) in TREX1 (Three-prime repair exonuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P58H (p.Pro58His) variant details
- p.Pro58His
- rs1156394177
- gnomAD 3-48466826-TCCTC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 23.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available