D120N (p.Asp120Asn) variant of TNFRSF1A (P19438)
D120N (p.Asp120Asn) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TNFRSF1A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- rs2497799326
- ClinGen CA383550231
- ClinVar RCV003406052
- Uncertain significance
- TNFRSF1A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.39
- CADD 15.90
- PolyPhen-2 0.40
- SIFT 0.11
- ClinVar: Uncertain significance (TNFRSF1A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available