R14K (p.Arg14Lys) variant of EPAS1 (Q99814)
R14K (p.Arg14Lys) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R14K (p.Arg14Lys) variant details
- p.Arg14Lys
- rs73926269
- ClinGen CA1644469
- ClinVar RCV001141086
- ClinVar RCV002327408
- Conflicting interpretations
- Inborn genetic diseases; not provided; Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.10
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Erythrocytosis, familial,)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.037)
- 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)