P44L (p.Pro44Leu) variant of EPAS1 (Q99814)
P44L (p.Pro44Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs2546439942
- ClinGen CA346697094
- ClinVar RCV002385648
- ClinVar RCV003774260
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.53
- MetaLR 0.21
- MetaSVM -0.50
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)