R2038Q (p.Arg2038Gln) variant of ABCA4 (P78363)
R2038Q (p.Arg2038Gln) 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, published literature, and structural context.
R2038Q (p.Arg2038Gln) variant details
- p.Arg2038Gln
- rs767729255
- ClinGen CA957026
- cosmic curated COSV64679
- ClinVar RCV000291561
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.89
- MetaLR 0.93
- MetaSVM 1.04
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)