G88R (p.Gly88Arg) variant of ABCA4 (P78363)
G88R (p.Gly88Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G88R (p.Gly88Arg) variant details
- p.Gly88Arg
- ExAC rs754554866
- gnomAD rs754554866
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.85
- MetaLR 1.00
- MetaSVM 0.92
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available