A45G (p.Ala45Gly) variant of ABCA4 (P78363)
A45G (p.Ala45Gly) in ABCA4 (P78363) 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 0.22 / 1. The record also includes population frequency data and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- ESP rs368503198
- ExAC rs368503198
- TOPMed rs368503198
- gnomAD rs368503198
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available