T44S (p.Thr44Ser) variant of RAD50 (DNA repair protein RAD50)
T44S (p.Thr44Ser) 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 not provided; Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrom. 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.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- rs377388354
- ClinGen CA3404915
- ClinVar RCV000219093
- ClinVar RCV003137825
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Nijmegen breakage syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Nijmegen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- 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)