I2T (p.Ile2Thr) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
I2T (p.Ile2Thr) in PDCD1LG2 (Programmed cell death 1 ligand 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I2T (p.Ile2Thr) variant details
- p.Ile2Thr
- ExAC rs764540241
- TOPMed rs764540241
- gnomAD rs764540241
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.07
- AlphaMissense 0.20
- MetaLR 0.01
- MetaSVM -1.01
- CADD 22.10
- PolyPhen-2 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available