V12M (p.Val12Met) variant of RAD50 (DNA repair protein RAD50)
V12M (p.Val12Met) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neuroepithelial tumor, PATZ1 fusion-pos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- rs755022536
- ClinGen CA3404876
- ClinVar RCV000542137
- ClinVar RCV003313092
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroepithelial tumor, PATZ1 fusion-pos
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroepithelial tumor,)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)