C5R (p.Cys5Arg) variant of AXL (P30530)
C5R (p.Cys5Arg) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
C5R (p.Cys5Arg) variant details
- p.Cys5Arg
- gnomAD 19-41219405-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available