A33P (p.Ala33Pro) variant of BRAF (P15056)
A33P (p.Ala33Pro) 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 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- rs1458837905
- ClinGen CA369590107
- ClinVar RCV003654629
- TOPMed rs1458837905
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- MetaLR 0.14
- MetaSVM -1.01
- CADD 17.50
- PolyPhen-2 0.74
- SIFT 0.25
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.442