A1219P (p.Ala1219Pro) variant of ABCA4 (P78363)
A1219P (p.Ala1219Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A1219P (p.Ala1219Pro) variant details
- p.Ala1219Pro
- rs766740575
- ClinGen CA957858
- ClinVar RCV003562258
- ClinVar RCV006455689
- Pathogenic/Likely pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.85
- MetaLR 0.67
- MetaSVM 0.54
- CADD 25.50
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available