A14E (p.Ala14Glu) variant of TNFRSF4 (P43489)
A14E (p.Ala14Glu) 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 0.17 / 1. The record also includes population frequency data.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- 1000Genomes rs569590056
- ExAC rs569590056
- TOPMed rs569590056
- gnomAD rs569590056
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.15
- CADD 3.99
- PolyPhen-2 0.07
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)