S49P (p.Ser49Pro) variant of TNFRSF13B (O14836)
S49P (p.Ser49Pro) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- rs374547688
- ClinGen CA8414100
- ClinVar RCV000768342
- ClinVar RCV001066871
- Conflicting interpretations
- Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.42
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Immunodeficiency, common variable, 2; Immunoglobulin A deficienc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available