D80Y (p.Asp80Tyr) variant of TNFRSF1A (P19438)
D80Y (p.Asp80Tyr) in TNFRSF1A (P19438) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D80Y (p.Asp80Tyr) variant details
- p.Asp80Tyr
- gnomAD rs1948084094
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.49
- AlphaMissense 0.30
- MetaLR 0.56
- MetaSVM -0.21
- CADD 14.00
- PolyPhen-2 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available