A42V (p.Ala42Val) variant of RAF1 (P04049)
A42V (p.Ala42Val) 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 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.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs11549992
- ClinGen CA2259832
- ClinVar RCV000290750
- ClinVar RCV000398939
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.14
- MetaLR 0.23
- MetaSVM -0.65
- PolyPhen-2 0.44
- SIFT 0.12
- ClinVar: Likely benign (RASopathy)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.0973
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)