C54G (p.Cys54Gly) variant of ABCA4 (P78363)
C54G (p.Cys54Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 19; Severe early-childhood-onset retinal dystrophy; Cone-ro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C54G (p.Cys54Gly) variant details
- p.Cys54Gly
- rs886044720
- ClinGen CA10602457
- ClinVar RCV000408466
- ClinVar RCV002485454
- Likely pathogenic
- Retinitis pigmentosa 19; Severe early-childhood-onset retinal dystrophy; Cone-ro
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.95
- ClinVar: Likely pathogenic (Retinitis pigmentosa 19; Severe early-childhood-onset retinal dy)
- EBI: Likely pathogenic (in STGD1)
- UniProt: Likely pathogenic (in STGD1)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)