R10C (p.Arg10Cys) variant of TNFRSF4 (P43489)
R10C (p.Arg10Cys) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Combined immunodeficiency due to OX40 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs35304565
- ClinGen CA512709
- ClinVar RCV000559880
- ClinVar RCV003915623
- Benign/Likely benign
- not specified; Combined immunodeficiency due to OX40 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Benign/Likely benign (not specified; Combined immunodeficiency due to OX40 deficiency;)
- EBI: Benign (in dbSNP:rs35304565)
- UniProt: Benign (in dbSNP:rs35304565)
- Most common in the HGDP:MAKRANI population (allele frequency 0.045)
- Literature evidence available