L525P (p.Leu525Pro) variant of BRAF (P15056)
L525P (p.Leu525Pro) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Melanoma; not provided; Noonan syndrome 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L525P (p.Leu525Pro) variant details
- p.Leu525Pro
- rs869025340
- ClinGen CA354839
- cosmic curated COSV56324
- ClinVar RCV000207510
- Pathogenic/Likely pathogenic
- Melanoma; not provided; Noonan syndrome 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.56
- PolyPhen-2 0.98
- EVE 0.60
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Melanoma; not provided; Noonan syndrome 7)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated… (PMID 19206169)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)