P41R (p.Pro41Arg) variant of AXL (P30530)
P41R (p.Pro41Arg) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P41R (p.Pro41Arg) variant details
- p.Pro41Arg
- ExAC rs749268016
- gnomAD rs749268016
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.35
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available