P45Q (p.Pro45Gln) variant of TNFRSF13C (Q96RJ3)
P45Q (p.Pro45Gln) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
P45Q (p.Pro45Gln) variant details
- p.Pro45Gln
- TOPMed rs1028425566
- gnomAD rs1028425566
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.04
- CADD 17.40
- PolyPhen-2 0.40
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)