R106Q (p.Arg106Gln) variant of TNFRSF1A (P19438)
R106Q (p.Arg106Gln) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R106Q (p.Arg106Gln) variant details
- p.Arg106Gln
- rs876661031
- ClinGen CA10577454
- ClinVar RCV000216297
- gnomAD rs876661031
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.63
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available