P54R (p.Pro54Arg) variant of TREX1 (Three-prime repair exonuclease 1)
P54R (p.Pro54Arg) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- Ensembl rs1315987398
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 6.12
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available