C54F (p.Cys54Phe) variant of ABCA4 (P78363)
C54F (p.Cys54Phe) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data and structural context.
C54F (p.Cys54Phe) variant details
- p.Cys54Phe
- rs150774447
- ClinGen CA226909
- ClinVar RCV000085409
- ClinVar RCV000132585
- Pathogenic
- Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available