P44T (p.Pro44Thr) variant of BRAF (P15056)
P44T (p.Pro44Thr) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P44T (p.Pro44Thr) variant details
- p.Pro44Thr
- rs1279627804
- ClinGen CA369590043
- ClinVar RCV003278237
- TOPMed rs1279627804
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.21
- MetaSVM -0.82
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0587