R2139P (p.Arg2139Pro) variant of ABCA4 (P78363)
R2139P (p.Arg2139Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R2139P (p.Arg2139Pro) variant details
- p.Arg2139Pro
- rs761867791
- ClinGen CA10611614
- ClinVar RCV001099678
- ClinVar RCV001380600
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 1.00
- MetaLR 0.99
- MetaSVM 1.05
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available