E13K (p.Glu13Lys) variant of XRCC2 (DNA repair protein XRCC2)
E13K (p.Glu13Lys) in XRCC2 (DNA repair protein XRCC2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- gnomAD 7-152676043-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -0.96
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available