A52G (p.Ala52Gly) variant of TNFRSF13C (Q96RJ3)
A52G (p.Ala52Gly) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and published literature.
A52G (p.Ala52Gly) variant details
- p.Ala52Gly
- gnomAD 22-41926313-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -0.99
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Literature evidence available