G30D (p.Gly30Asp) variant of BRAF (P15056)
G30D (p.Gly30Asp) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs1273585752
- ClinGen CA369590118
- NCI-TCGA Cosmic COSV5633
- cosmic curated COSV56332
- Uncertain significance
- Cardiofaciocutaneous syndrome 1; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- MetaLR 0.14
- MetaSVM -0.92
- CADD 21.00
- PolyPhen-2 0.43
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 1; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.156
- 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)