N40S (p.Asn40Ser) variant of AXL (P30530)
N40S (p.Asn40Ser) in AXL (P30530) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- gnomAD 19-41220669-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.07
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available