A34V (p.Ala34Val) variant of TNFRSF13C (Q96RJ3)
A34V (p.Ala34Val) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs777204893
- ClinGen CA411763589
- ClinVar RCV003063776
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.13
- CADD 18.50
- PolyPhen-2 0.66
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available