S2T (p.Ser2Thr) variant of RAD50 (DNA repair protein RAD50)
S2T (p.Ser2Thr) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs1750018146
- ClinGen CA360950642
- ClinVar RCV002037159
- Ensembl rs1750018146
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.34
- MetaLR 0.03
- MetaSVM -1.12
- CADD 23.60
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)