A60V (p.Ala60Val) variant of EPAS1 (Q99814)
A60V (p.Ala60Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs1400888506
- ClinGen CA346697200
- ClinVar RCV002407847
- TOPMed rs1400888506
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -1.11
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)