A42I (p.Ala42Ile) variant of RAF1 (P04049)
A42I (p.Ala42Ile) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The record also includes experimental measurements, published literature, and structural context.
A42I (p.Ala42Ile) variant details
- p.Ala42Ile
- rs876657965
- ClinGen CA10576608
- ClinVar RCV000219930
- ClinVar RCV000461796
- Likely benign
- RASopathy
- Missense
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.0973
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)