I61V (p.Ile61Val) variant of EPAS1 (Q99814)
I61V (p.Ile61Val) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- rs757224585
- ClinGen CA1644483
- ClinVar RCV003173375
- ClinVar RCV006473912
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.21
- MetaLR 0.10
- MetaSVM -1.09
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)