M23R (p.Met23Arg) variant of BRAF (P15056)
M23R (p.Met23Arg) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M23R (p.Met23Arg) variant details
- p.Met23Arg
- rs746778122
- ClinGen CA369590160
- ClinVar RCV002756878
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- MetaLR 0.23
- MetaSVM -0.80
- CADD 24.20
- PolyPhen-2 0.30
- SIFT 0.16
- ClinVar: Uncertain significance (RASopathy)
- 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