A38P (p.Ala38Pro) variant of BRAF (P15056)
A38P (p.Ala38Pro) 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; Noonan syndrome 1; Melanoma, cutaneous malignant, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A38P (p.Ala38Pro) variant details
- p.Ala38Pro
- rs1011563467
- ClinGen CA168218467
- ClinVar RCV001352546
- ClinVar RCV002322307
- Uncertain significance
- not provided; Noonan syndrome 1; Melanoma, cutaneous malignant, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- MetaLR 0.17
- MetaSVM -0.76
- CADD 22.10
- PolyPhen-2 0.39
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Noonan syndrome 1; Melanoma, cutaneous malignant,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.001
- 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)