G11A (p.Gly11Ala) variant of BRAF (P15056)
G11A (p.Gly11Ala) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- rs1818679372
- ClinGen CA369590234
- ClinVar RCV003655626
- Ensembl rs1818679372
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- MetaLR 0.16
- MetaSVM -0.99
- CADD 22.00
- PolyPhen-2 0.13
- SIFT 0.19
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0453