A18P (p.Ala18Pro) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
A18P (p.Ala18Pro) in PDCD1LG2 (Programmed cell death 1 ligand 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- rs1037381642
- ClinGen CA188299559
- ClinVar RCV004272242
- TOPMed rs1037381642
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.07
- AlphaMissense 0.14
- MetaLR 0.04
- MetaSVM -1.03
- CADD 13.70
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available