A31G (p.Ala31Gly) variant of BRAF (P15056)
A31G (p.Ala31Gly) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of 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, and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- rs397516906
- ClinGen CA135146
- ClinVar RCV000037963
- ClinVar RCV000521017
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- MetaLR 0.16
- MetaSVM -0.99
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.17