A48D (p.Ala48Asp) variant of TNFRSF13C (Q96RJ3)
A48D (p.Ala48Asp) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- gnomAD 22-41926325-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0981
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.06
- CADD 7.72
- PolyPhen-2 0.04
- SIFT 0.50
- Population evidence available
- Literature evidence available