M1I (p.Met1Ile) variant of TNFRSF13B (O14836)
M1I (p.Met1Ile) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs772864862
- ClinGen CA8414175
- ClinVar RCV001954212
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- MetaLR 0.80
- MetaSVM 0.68
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available