M53I (p.Met53Ile) variant of BRAF (P15056)
M53I (p.Met53Ile) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes experimental measurements and structural context.
M53I (p.Met53Ile) variant details
- p.Met53Ile
- rs2129073763
- ClinGen CA369588024
- ClinVar RCV001776429
- ClinVar RCV003120685
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.78
- PolyPhen-2 0.02
- SIFT 0.13
- MutPred 0.26
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0245