P37S (p.Pro37Ser) variant of RAD50 (DNA repair protein RAD50)
P37S (p.Pro37Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs876660763
- ClinGen CA10578472
- ClinVar RCV000216415
- Ensembl rs876660763
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 26.10
- PolyPhen-2 0.61
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)