G991V (p.Gly991Val) variant of ABCA4 (P78363)
G991V (p.Gly991Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Age related macular degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G991V (p.Gly991Val) variant details
- p.Gly991Val
- rs1297410481
- ClinGen CA341275178
- ClinVar RCV001999928
- ClinVar RCV005025516
- Pathogenic/Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Age related macular degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.23
- MetaLR 0.93
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic/Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Age related macu)
- EBI: Pathogenic (in FFM and STGD1)
- UniProt: Pathogenic (in FFM and STGD1)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)