A40T (p.Ala40Thr) variant of RAD50 (DNA repair protein RAD50)
A40T (p.Ala40Thr) 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 0.37 / 1. The record also includes published literature and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs756353698
- ClinGen CA360951867
- ClinVar RCV002837482
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.24
- MetaLR 0.07
- MetaSVM -1.13
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.50
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)