P97R (p.Pro97Arg) variant of TNFRSF13B (O14836)
P97R (p.Pro97Arg) 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 0.76 / 1. The record also includes population frequency data.
P97R (p.Pro97Arg) variant details
- p.Pro97Arg
- rs754139414
- ClinGen CA8414050
- ClinVar RCV000648140
- ClinVar RCV000996500
- Uncertain significance
- not provided; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; 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)