P32L (p.Pro32Leu) variant of ABCA4 (P78363)
P32L (p.Pro32Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs1428504985
- ClinGen CA341286731
- ClinVar RCV001378487
- ClinVar RCV005432697
- Pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.84
- MetaLR 0.93
- MetaSVM 1.06
- CADD 28.50
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available