A22V (p.Ala22Val) variant of EPAS1 (Q99814)
A22V (p.Ala22Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs1341157277
- ClinGen CA346696904
- NCI-TCGA Cosmic COSV9976
- ClinVar RCV002364559
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)