N581S (p.Asn581Ser) variant of BRAF (P15056)
N581S (p.Asn581Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
N581S (p.Asn581Ser) variant details
- p.Asn581Ser
- rs121913370
- ClinGen CA180747
- NCI-TCGA Cosmic COSV5605
- cosmic curated COSV56058
- Likely pathogenic
- Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- MutPred 0.93
- ClinVar: Likely pathogenic (Non-small cell lung carcinoma)
- EBI: Likely pathogenic (in a colorectal adenocarcinoma sample)
- UniProt: Likely pathogenic (in a colorectal adenocarcinoma sample)
- Population evidence available
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)