N38S (p.Asn38Ser) variant of RAD50 (DNA repair protein RAD50)
N38S (p.Asn38Ser) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs750480943
- ClinGen CA3404888
- NCI-TCGA Cosmic COSV9952
- ClinVar RCV000233503
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.89
- MetaLR 0.12
- MetaSVM -0.99
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)