G30A (p.Gly30Ala) variant of BRAF (P15056)
G30A (p.Gly30Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- rs1273585752
- ClinGen CA369590119
- ClinVar RCV003540071
- 1000Genomes rs1273585752
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- MetaLR 0.13
- MetaSVM -0.93
- CADD 19.30
- PolyPhen-2 0.16
- SIFT 0.11
- ClinVar: Uncertain significance (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.156