S2F (p.Ser2Phe) variant of RAD50 (DNA repair protein RAD50)
S2F (p.Ser2Phe) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs1554096631
- ClinGen CA360950661
- ClinVar RCV000632227
- Ensembl rs1554096631
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.98
- MetaLR 0.15
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Conflicting classifications of pathogenicity (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)