S10N (p.Ser10Asn) variant of EPAS1 (Q99814)
S10N (p.Ser10Asn) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- gnomAD 2-46346875-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.02
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available