A33P (p.Ala33Pro) variant of XRCC2 (DNA repair protein XRCC2)
A33P (p.Ala33Pro) 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 Fanconi anemia complementation group U; not provided; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- rs774296079
- ClinGen CA4582404
- ClinVar RCV000460519
- ClinVar RCV001019768
- Uncertain significance
- Fanconi anemia complementation group U; not provided; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.29
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.02
- CADD 18.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Fanconi anemia complementation group U; not provided; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)