A64V (p.Ala64Val) variant of ABCA4 (P78363)
A64V (p.Ala64Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- rs1388219872
- ClinGen CA341285580
- ClinVar RCV003562276
- ClinVar RCV006262356
- Likely pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.88
- MetaLR 0.98
- MetaSVM 1.09
- CADD 28.80
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Likely pathogenic (Stargardt disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available