S49Y (p.Ser49Tyr) variant of EPAS1 (Q99814)
S49Y (p.Ser49Tyr) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Erythrocytosis, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S49Y (p.Ser49Tyr) variant details
- p.Ser49Tyr
- rs149898744
- ClinGen CA1644482
- ClinVar RCV000322297
- ClinVar RCV002392901
- Conflicting interpretations
- Inborn genetic diseases; not provided; Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.31
- MetaLR 0.19
- MetaSVM -0.54
- CADD 25.20
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Erythrocytosis, familial,)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00075)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)