N56K (p.Asn56Lys) variant of RAF1 (P04049)
N56K (p.Asn56Lys) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- rs142084658
- gnomAD 14-20891824-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.94
- CADD 0.00
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.559
- Literature evidence available