A18A (p.Ala18Ala) variant of CD274 (Programmed cell death 1 ligand 1)
A18A (p.Ala18Ala) in CD274 (Programmed cell death 1 ligand 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs200003059
- gnomAD 9-5457080-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 9.01
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available