T44N (p.Thr44Asn) variant of RAD50 (DNA repair protein RAD50)
T44N (p.Thr44Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T44N (p.Thr44Asn) variant details
- p.Thr44Asn
- rs1229751571
- ClinGen CA360953122
- ClinVar RCV000531260
- gnomAD rs1229751571
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.48
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)