A18T (p.Ala18Thr) variant of CD274 (Programmed cell death 1 ligand 1)
A18T (p.Ala18Thr) in CD274 (Programmed cell death 1 ligand 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs1243212672
- NCI-TCGA Cosmic COSV6750
- cosmic curated COSV67501
- TOPMed rs1243212672
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.15
- AlphaMissense 0.36
- MetaLR 0.38
- MetaSVM -0.27
- CADD 35.00
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available