A5D (p.Ala5Asp) variant of TNFRSF4 (P43489)
A5D (p.Ala5Asp) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- rs979161075
- ClinGen CA16734099
- ClinVar RCV001212948
- ClinVar RCV004877701
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.24
- CADD 9.28
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)