I140L (p.Ile140Leu) variant of XRCC3 (DNA repair protein XRCC3)
I140L (p.Ile140Leu) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I140L (p.Ile140Leu) variant details
- p.Ile140Leu
- TOPMed rs1254281866
- gnomAD rs1254281866
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.17
- CADD 18.60
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available