S2P (p.Ser2Pro) variant of RAD50 (DNA repair protein RAD50)
S2P (p.Ser2Pro) 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 0.33 / 1. The record also includes published literature and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- rs1750018146
- ClinGen CA360950643
- NCI-TCGA Cosmic COSV9952
- ClinVar RCV003747251
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.34
- MetaLR 0.03
- MetaSVM -1.12
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.40
- 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)