R2139Q (p.Arg2139Gln) variant of ABCA4 (P78363)
R2139Q (p.Arg2139Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R2139Q (p.Arg2139Gln) variant details
- p.Arg2139Gln
- rs761867791
- ClinGen CA956878
- NCI-TCGA Cosmic COSV6467
- cosmic curated COSV64677
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.10
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available