E45Q (p.Glu45Gln) variant of XRCC2 (DNA repair protein XRCC2)
E45Q (p.Glu45Gln) in XRCC2 (DNA repair protein XRCC2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- gnomAD 7-152649352-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.48
- MetaLR 0.42
- MetaSVM -0.05
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available