P21R (p.Pro21Arg) variant of TNFRSF13C (Q96RJ3)
P21R (p.Pro21Arg) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Immunodeficiency, common variable, 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs77874543
- ClinGen CA10262524
- ClinVar RCV000648324
- ClinVar RCV001643043
- Conflicting interpretations
- not specified; Immunodeficiency, common variable, 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0657
- REVEL 0.03
- CADD 8.23
- PolyPhen-2 0.07
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not specified; Immunodeficiency, common variable, 4; not provide)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)