A14G (p.Ala14Gly) variant of TNFRSF4 (P43489)
A14G (p.Ala14Gly) 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 0.12 / 1. The record also includes population frequency data.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- 1000Genomes rs569590056
- ExAC rs569590056
- TOPMed rs569590056
- gnomAD rs569590056
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.05
- CADD 6.76
- PolyPhen-2 0.03
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)