A5S (p.Ala5Ser) variant of CD274 (Programmed cell death 1 ligand 1)
A5S (p.Ala5Ser) in CD274 (Programmed cell death 1 ligand 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- 1000Genomes rs139709512
- ESP rs139709512
- ExAC rs139709512
- TOPMed rs139709512
- Missense
- Variant Prioritization Score for Impact Estimate 0.0928
- REVEL 0.01
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -0.99
- CADD 1.68
- PolyPhen-2 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available