G1050D (p.Gly1050Asp) variant of ABCA4 (P78363)
G1050D (p.Gly1050Asp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G1050D (p.Gly1050Asp) variant details
- p.Gly1050Asp
- rs61750062
- ClinGen CA227083
- NCI-TCGA Cosmic COSV6467
- ClinVar RCV000085550
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.72
- MetaLR 0.72
- MetaSVM 0.55
- CADD 23.30
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)