L14L (p.Leu14Leu) variant of XRCC2 (DNA repair protein XRCC2)
L14L (p.Leu14Leu) in XRCC2 (DNA repair protein XRCC2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs751479865
- gnomAD 7-152660780-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 10.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available