P16A (p.Pro16Ala) variant of TNFRSF13C (Q96RJ3)
P16A (p.Pro16Ala) 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 0.29 / 1. The record also includes population frequency data.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- rs2518792116
- ClinGen CA411763823
- ClinVar RCV003611130
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.66
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)