A60S (p.Ala60Ser) variant of EPAS1 (Q99814)
A60S (p.Ala60Ser) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- gnomAD 2-46347024-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available