P75R (p.Pro75Arg) variant of TNFRSF1A (P19438)
P75R (p.Pro75Arg) in TNFRSF1A (P19438) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in FPF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P75R (p.Pro75Arg) variant details
- p.Pro75Arg
- 1000Genomes rs4149637
- ESP rs4149637
- ExAC rs4149637
- TOPMed rs4149637
- Benign
- in FPF
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.40
- CADD 22.40
- EBI: Benign (in FPF)
- UniProt: Benign (in FPF)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available