G52V (p.Gly52Val) variant of AXL (P30530)
G52V (p.Gly52Val) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- gnomAD 19-41220705-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.06
- CADD 10.10
- PolyPhen-2 0.14
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available