S49C (p.Ser49Cys) variant of EPAS1 (Q99814)
S49C (p.Ser49Cys) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- ESP rs149898744
- ExAC rs149898744
- TOPMed rs149898744
- gnomAD rs149898744
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.31
- MetaLR 0.18
- MetaSVM -0.65
- CADD 25.60
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available