M23L (p.Met23Leu) variant of BRAF (P15056)
M23L (p.Met23Leu) in BRAF (P15056) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M23L (p.Met23Leu) variant details
- p.Met23Leu
- TOPMed rs1818671266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- MetaLR 0.20
- MetaSVM -0.91
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0292