P80L (p.Pro80Leu) variant of ABCA4 (P78363)
P80L (p.Pro80Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs1256178077
- ClinGen CA341285477
- ClinVar RCV001244854
- TOPMed rs1256178077
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.86
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available