G69S (p.Gly69Ser) variant of BRAF (P15056)
G69S (p.Gly69Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Diffuse midline glioma, H3 K27-altered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G69S (p.Gly69Ser) variant details
- p.Gly69Ser
- rs757446039
- ClinGen CA4517022
- cosmic curated COSV56335
- ClinVar RCV003655648
- Uncertain significance
- RASopathy; Diffuse midline glioma, H3 K27-altered
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.39
- MetaSVM -0.33
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy; Diffuse midline glioma, H3 K27-altered)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0478