K30N (p.Lys30Asn) variant of TREX1 (Three-prime repair exonuclease 1)
K30N (p.Lys30Asn) 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.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD rs1243784456
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 25.20
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available