A14V (p.Ala14Val) variant of TNFRSF4 (P43489)
A14V (p.Ala14Val) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Combined immunodeficiency due to OX40 deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs569590056
- ClinGen CA16734038
- ClinVar RCV003745261
- ClinVar RCV005515608
- Conflicting interpretations
- Combined immunodeficiency due to OX40 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.04
- CADD 1.59
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (Combined immunodeficiency due to OX40 deficiency; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)