P29S (p.Pro29Ser) variant of XRCC2 (DNA repair protein XRCC2)
P29S (p.Pro29Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- rs2098032742
- ClinGen CA370199468
- ClinVar RCV001312321
- Ensembl rs2098032742
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.17
- AlphaMissense 0.22
- MetaLR 0.19
- MetaSVM -0.82
- CADD 23.50
- PolyPhen-2 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available