M31V (p.Met31Val) variant of TNFRSF13B (O14836)
M31V (p.Met31Val) 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 0.55 / 1. The record also includes population frequency data.
M31V (p.Met31Val) variant details
- p.Met31Val
- rs368391092
- ClinGen CA8414121
- ClinVar RCV002918565
- ClinVar RCV004750218
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.62
- CADD 22.90
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)