S12L (p.Ser12Leu) variant of EPAS1 (Q99814)
S12L (p.Ser12Leu) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- rs376889179
- ClinGen CA1644467
- ClinVar RCV003173356
- ClinVar RCV005101209
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- 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)