L17P (p.Leu17Pro) variant of ABCA4 (P78363)
L17P (p.Leu17Pro) 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 0.75 / 1. The record also includes population frequency data and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- rs1322362097
- ClinGen CA341288613
- ClinVar RCV001983210
- gnomAD rs1322362097
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.80
- MetaLR 0.77
- MetaSVM 0.67
- CADD 28.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available