L31M (p.Leu31Met) variant of XRCC2 (DNA repair protein XRCC2)
L31M (p.Leu31Met) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
L31M (p.Leu31Met) variant details
- p.Leu31Met
- rs748198457
- ClinGen CA370199456
- ClinVar RCV001369291
- ExAC rs748198457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.20
- MetaLR 0.37
- MetaSVM -0.27
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available