M1K (p.Met1Lys) variant of TNFRSF13C (Q96RJ3)
M1K (p.Met1Lys) 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 0.29 / 1. The record also includes population frequency data.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1299112321
- ClinGen CA411763988
- ClinVar RCV002024398
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- MetaLR 0.06
- MetaSVM -1.07
- PolyPhen-2 0.27
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available