P62A (p.Pro62Ala) variant of ABCA4 (P78363)
P62A (p.Pro62Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P62A (p.Pro62Ala) variant details
- p.Pro62Ala
- rs1355238974
- ClinGen CA341285596
- ClinVar RCV003832349
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- AlphaMissense 0.89
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.50
- PolyPhen-2 0.97
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available