N73S (p.Asn73Ser) variant of TNFRSF4 (P43489)
N73S (p.Asn73Ser) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
N73S (p.Asn73Ser) variant details
- p.Asn73Ser
- ExAC rs770900616
- gnomAD rs770900616
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.18
- CADD 14.80
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)