P44L (p.Pro44Leu) variant of BRAF (P15056)
P44L (p.Pro44Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs794726917
- ClinGen CA238790
- ClinVar RCV000173337
- Ensembl rs794726917
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- MetaLR 0.18
- MetaSVM -0.81
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0587