P29L (p.Pro29Leu) variant of XRCC2 (DNA repair protein XRCC2)
P29L (p.Pro29Leu) 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 0.43 / 1. The record also includes structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs2098032740
- ClinGen CA370199465
- ClinVar RCV001340977
- Ensembl rs2098032740
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.20
- MetaLR 0.31
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available