K30R (p.Lys30Arg) variant of TREX1 (Three-prime repair exonuclease 1)
K30R (p.Lys30Arg) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- gnomAD rs1340882700
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available