A18V (p.Ala18Val) variant of AXL (P30530)
A18V (p.Ala18Val) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs145867512
- ClinGen CA9457825
- ClinVar RCV000893940
- 1000Genomes rs145867512
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0558
- REVEL 0.04
- CADD 0.50
- PolyPhen-2 0.03
- SIFT 0.86
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available