A70E (p.Ala70Glu) variant of TNFRSF13C (Q96RJ3)
A70E (p.Ala70Glu) 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 0.23 / 1. The record also includes population frequency data.
A70E (p.Ala70Glu) variant details
- p.Ala70Glu
- gnomAD rs1234917601
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.03
- CADD 4.31
- PolyPhen-2 0.07
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)