L48V (p.Leu48Val) variant of RAF1 (P04049)
L48V (p.Leu48Val) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- rs752967378
- ClinGen CA10587562
- ClinVar RCV000242585
- ExAC rs752967378
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.506