A42S (p.Ala42Ser) variant of BRAF (P15056)
A42S (p.Ala42Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 7; Colorectal cancer; Melanoma, cutaneous malignant, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- rs2129153151
- ClinGen CA369590054
- ClinVar RCV002018978
- ClinVar RCV002492210
- Uncertain significance
- Noonan syndrome 7; Colorectal cancer; Melanoma, cutaneous malignant, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- MetaLR 0.18
- MetaSVM -0.98
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.98
- ClinVar: Uncertain significance (Noonan syndrome 7; Colorectal cancer; Melanoma, cutaneous malign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0468
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)