G2074V (p.Gly2074Val) variant of ABCA4 (P78363)
G2074V (p.Gly2074Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related disorder; not provided; Retinitis pigmentosa 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G2074V (p.Gly2074Val) variant details
- p.Gly2074Val
- rs367839100
- ClinGen CA956985
- ClinVar RCV000850519
- ClinVar RCV001074418
- Pathogenic/Likely pathogenic
- ABCA4-related disorder; not provided; Retinitis pigmentosa 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related disorder; not provided; Retinitis pigmentosa 19)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- Structural context available
- Cited in: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence… (PMID 23419329)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)