P27S (p.Pro27Ser) variant of AXL (P30530)
P27S (p.Pro27Ser) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- ExAC rs768231361
- TOPMed rs768231361
- gnomAD rs768231361
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.20
- CADD 17.70
- PolyPhen-2 0.27
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available