N56S (p.Asn56Ser) variant of RAF1 (P04049)
N56S (p.Asn56Ser) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N56S (p.Asn56Ser) variant details
- p.Asn56Ser
- gnomAD 14-20891862-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0797
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.01
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.559
- Literature evidence available