L5R (p.Leu5Arg) variant of XRCC3 (DNA repair protein XRCC3)
L5R (p.Leu5Arg) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- gnomAD rs1014842828
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.10
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available