L50V (p.Leu50Val) variant of AXL (P30530)
L50V (p.Leu50Val) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD 19-41220698-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.02
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available