M1V (p.Met1Val) variant of RAF1 (P04049)
M1V (p.Met1Val) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiovascular phenotype; LEOPARD syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes experimental measurements, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2125453796
- ClinGen CA351485294
- ClinVar RCV002019360
- ClinVar RCV004555630
- Uncertain significance
- RASopathy; Cardiovascular phenotype; LEOPARD syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- MetaLR 0.55
- MetaSVM 0.15
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (RASopathy; Cardiovascular phenotype; LEOPARD syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.369
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)