M23K (p.Met23Lys) variant of BRAF (P15056)
M23K (p.Met23Lys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; 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.
M23K (p.Met23Lys) variant details
- p.Met23Lys
- rs746778122
- ClinGen CA4517045
- ClinVar RCV000702844
- ClinVar RCV000779849
- Benign/Likely benign
- not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- MetaLR 0.23
- MetaSVM -0.80
- CADD 23.70
- PolyPhen-2 0.22
- SIFT 0.04
- ClinVar: Benign/Likely benign (not specified; RASopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0292