P47L (p.Pro47Leu) variant of ABCA4 (P78363)
P47L (p.Pro47Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ABCA4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs143207212
- ClinGen CA958924
- ClinVar RCV001102139
- 1000Genomes rs143207212
- Uncertain significance
- ABCA4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.75
- MetaLR 0.77
- MetaSVM 0.55
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (ABCA4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available