K5R (p.Lys5Arg) variant of EPAS1 (Q99814)
K5R (p.Lys5Arg) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- rs1158312540
- ClinGen CA346695246
- ClinVar RCV002389888
- TOPMed rs1158312540
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.01
- CADD 24.10
- PolyPhen-2 0.25
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)