R27W (p.Arg27Trp) variant of EPAS1 (Q99814)
R27W (p.Arg27Trp) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- NCI-TCGA Cosmic COSV9976
- Ensembl rs2103616168
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.56
- MetaLR 0.22
- MetaSVM -0.50
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available