P41L (p.Pro41Leu) variant of TNFRSF13C (Q96RJ3)
P41L (p.Pro41Leu) 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 0.25 / 1. The record also includes population frequency data.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- rs1556159000
- ClinGen CA411763512
- ClinVar RCV000576165
- Ensembl rs1556159000
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)