M7T (p.Met7Thr) variant of PDCD1LG2 (Programmed cell death 1 ligand 2)
M7T (p.Met7Thr) in PDCD1LG2 (Programmed cell death 1 ligand 2) is a missense change. Clinical records from ClinVar 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 0.16 / 1. The record also includes population frequency data and structural context.
M7T (p.Met7Thr) variant details
- p.Met7Thr
- ESP rs139799003
- ExAC rs139799003
- TOPMed rs139799003
- gnomAD rs139799003
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.02
- AlphaMissense 0.14
- MetaLR 0.01
- MetaSVM -0.94
- CADD 5.90
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available