G69A (p.Gly69Ala) variant of BRAF (P15056)
G69A (p.Gly69Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Colorectal cancer; Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G69A (p.Gly69Ala) variant details
- p.Gly69Ala
- rs1554412417
- ClinGen CA369587798
- ClinVar RCV000587988
- ClinVar RCV001860135
- Uncertain significance
- not provided; Colorectal cancer; Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- MetaLR 0.16
- MetaSVM -0.75
- CADD 20.00
- PolyPhen-2 0.23
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Colorectal cancer; Cardiofaciocutaneous syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0478
- 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)