L43V (p.Leu43Val) variant of EPAS1 (Q99814)
L43V (p.Leu43Val) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Erythrocytosis, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- rs752221582
- ClinGen CA1644479
- ClinVar RCV002385266
- ClinVar RCV005058574
- Uncertain significance
- not provided; Inborn genetic diseases; Erythrocytosis, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.27
- MetaLR 0.11
- MetaSVM -0.99
- CADD 22.90
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Erythrocytosis, familial,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)