D41H (p.Asp41His) variant of TNFRSF13B (O14836)
D41H (p.Asp41His) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
D41H (p.Asp41His) variant details
- p.Asp41His
- rs67951770
- ClinGen CA8414109
- ClinVar RCV001957681
- ClinVar RCV003892984
- Uncertain significance
- not provided; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.83
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)