P51L (p.Pro51Leu) variant of TNFRSF13C (Q96RJ3)
P51L (p.Pro51Leu) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar 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 0.05 / 1. The record also includes population frequency data.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- TOPMed rs1355074916
- gnomAD rs1355074916
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0516
- REVEL 0.03
- CADD 2.38
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)