S48C (p.Ser48Cys) variant of EPAS1 (Q99814)
S48C (p.Ser48Cys) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- gnomAD 2-46346988-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.30
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available