P638S (p.Pro638Ser) variant of ABCA4 (P78363)
P638S (p.Pro638Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P638S (p.Pro638Ser) variant details
- p.Pro638Ser
- rs754088610
- ClinGen CA958401
- NCI-TCGA Cosmic COSV6467
- ClinVar RCV001199602
- Pathogenic
- Isolated macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- MetaLR 0.77
- MetaSVM 0.70
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Isolated macular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available