A23V (p.Ala23Val) variant of EPAS1 (Q99814)
A23V (p.Ala23Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs1320324950
- NCI-TCGA Cosmic COSV5538
- gnomAD rs1320324950
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.38
- MetaLR 0.25
- MetaSVM -0.36
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available