I2N (p.Ile2Asn) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
I2N (p.Ile2Asn) 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 0.23 / 1. The record also includes population frequency data and structural context.
I2N (p.Ile2Asn) variant details
- p.Ile2Asn
- ExAC rs764540241
- TOPMed rs764540241
- gnomAD rs764540241
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- AlphaMissense 0.12
- MetaLR 0.01
- MetaSVM -1.02
- CADD 22.50
- PolyPhen-2 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available