L48P (p.Leu48Pro) variant of RAF1 (P04049)
L48P (p.Leu48Pro) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- rs1272043183
- gnomAD 14-20891730-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.05
- CADD 18.80
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.506
- Literature evidence available