E33K (p.Glu33Lys) variant of TREX1 (Three-prime repair exonuclease 1)
E33K (p.Glu33Lys) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD 3-48466752-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available