E32V (p.Glu32Val) variant of EPAS1 (Q99814)
E32V (p.Glu32Val) in EPAS1 (Q99814) 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 0.58 / 1. The record also includes population frequency data and structural context.
E32V (p.Glu32Val) variant details
- p.Glu32Val
- NCI-TCGA Cosmic COSV5538
- Ensembl rs1684041216
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.62
- AlphaMissense 0.65
- MetaLR 0.14
- MetaSVM -0.90
- CADD 29.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available