S87N (p.Ser87Asn) variant of BRAF (P15056)
S87N (p.Ser87Asn) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 1; Melanoma, cutaneous malignant, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S87N (p.Ser87Asn) variant details
- p.Ser87Asn
- rs1033856250
- ClinGen CA168127419
- ClinVar RCV001590546
- ClinVar RCV003539395
- Uncertain significance
- Cardiofaciocutaneous syndrome 1; Melanoma, cutaneous malignant, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- MetaLR 0.36
- MetaSVM -0.26
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 1; Melanoma, cutaneous malignant,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)