A35T (p.Ala35Thr) variant of BRAF (P15056)
A35T (p.Ala35Thr) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs1818660367
- ClinGen CA369590096
- ClinVar RCV002026344
- Ensembl rs1818660367
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- MetaLR 0.13
- MetaSVM -0.99
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0076