Y35C (p.Tyr35Cys) variant of EPAS1 (Q99814)
Y35C (p.Tyr35Cys) 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 0.40 / 1. The record also includes population frequency data and structural context.
Y35C (p.Tyr35Cys) variant details
- p.Tyr35Cys
- gnomAD rs1477954904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.34
- MetaLR 0.16
- MetaSVM -0.82
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available