P62L (p.Pro62Leu) variant of ABCA4 (P78363)
P62L (p.Pro62Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- rs1057520211
- ClinGen CA16603771
- ClinVar RCV000417747
- ClinVar RCV001075540
- Conflicting interpretations
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available