S87G (p.Ser87Gly) variant of BRAF (P15056)
S87G (p.Ser87Gly) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S87G (p.Ser87Gly) variant details
- p.Ser87Gly
- rs876661018
- ClinGen CA10577327
- cosmic curated COSV10517
- ClinVar RCV000223377
- Conflicting interpretations
- Cardiovascular phenotype; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.33
- MetaSVM -0.38
- CADD 23.00
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available