P80Q (p.Pro80Gln) variant of TNFRSF4 (P43489)
P80Q (p.Pro80Gln) in TNFRSF4 (P43489) 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 0.25 / 1. The record also includes population frequency data.
P80Q (p.Pro80Gln) variant details
- p.Pro80Gln
- rs757655414
- NCI-TCGA Cosmic COSV5542
- 1000Genomes rs757655414
- ExAC rs757655414
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.32
- CADD 10.60
- PolyPhen-2 0.67
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available