R40K (p.Arg40Lys) variant of RAF1 (P04049)
R40K (p.Arg40Lys) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- gnomAD 14-20891787-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -1.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.136
- Literature evidence available