A111G (p.Ala111Gly) variant of TNFRSF4 (P43489)
A111G (p.Ala111Gly) in TNFRSF4 (P43489) 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 0.27 / 1. The record also includes population frequency data and structural context.
A111G (p.Ala111Gly) variant details
- p.Ala111Gly
- ExAC rs777266991
- TOPMed rs777266991
- gnomAD rs777266991
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.03
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available