A46V (p.Ala46Val) variant of TNFRSF13C (Q96RJ3)
A46V (p.Ala46Val) in TNFRSF13C (Q96RJ3) 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 0.18 / 1. The record also includes population frequency data.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- 1000Genomes rs750766446
- ExAC rs750766446
- gnomAD rs750766446
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.86
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)