A52E (p.Ala52Glu) variant of TNFRSF13C (Q96RJ3)
A52E (p.Ala52Glu) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
A52E (p.Ala52Glu) variant details
- p.Ala52Glu
- gnomAD 22-41926313-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.01
- CADD 9.17
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Literature evidence available