A17P (p.Ala17Pro) variant of BRAF (P15056)
A17P (p.Ala17Pro) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- rs1818675668
- ClinGen CA369590199
- ClinVar RCV001233201
- Ensembl rs1818675668
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- MetaLR 0.17
- MetaSVM -0.98
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.476