R10T (p.Arg10Thr) variant of AXL (P30530)
R10T (p.Arg10Thr) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R10T (p.Arg10Thr) variant details
- p.Arg10Thr
- gnomAD 19-41219421-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available