L18F (p.Leu18Phe) variant of XRCC2 (DNA repair protein XRCC2)
L18F (p.Leu18Phe) in XRCC2 (DNA repair protein XRCC2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- ExAC rs777085483
- gnomAD rs777085483
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.12
- MetaLR 0.35
- MetaSVM -0.34
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available