E45K (p.Glu45Lys) variant of XRCC3 (DNA repair protein XRCC3)
E45K (p.Glu45Lys) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs767384633
- ClinGen CA7366634
- cosmic curated COSV61398
- ClinVar RCV003884930
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available