A42D (p.Ala42Asp) variant of RAF1 (P04049)
A42D (p.Ala42Asp) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- gnomAD 14-20891802-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.19
- MetaLR 0.21
- MetaSVM -0.90
- CADD 0.00
- PolyPhen-2 0.17
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.0973
- Literature evidence available