C25R (p.Cys25Arg) variant of EPAS1 (Q99814)
C25R (p.Cys25Arg) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
C25R (p.Cys25Arg) variant details
- p.Cys25Arg
- gnomAD 2-46346919-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.40
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available