L70P (p.Leu70Pro) variant of ABCA4 (P78363)
L70P (p.Leu70Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- rs2101162564
- ClinGen CA341285546
- ClinVar RCV002045452
- Ensembl rs2101162564
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available