G9A (p.Gly9Ala) variant of BRAF (P15056)
G9A (p.Gly9Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melanoma, cutaneous malignant, susceptibility to, 1; Cardiofaciocutaneous syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- rs1211436028
- ClinGen CA369590247
- ClinVar RCV001958359
- ClinVar RCV002425313
- Uncertain significance
- Melanoma, cutaneous malignant, susceptibility to, 1; Cardiofaciocutaneous syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- MetaLR 0.16
- MetaSVM -0.90
- CADD 17.60
- PolyPhen-2 0.08
- SIFT 0.10
- ClinVar: Uncertain significance (Melanoma, cutaneous malignant, susceptibility to, 1; Cardiofacio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.192
- 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)