P1306L (p.Pro1306Leu) variant of ABCA4 (P78363)
P1306L (p.Pro1306Leu) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P1306L (p.Pro1306Leu) variant details
- p.Pro1306Leu
- cosmic curated COSV64678
- Ensembl rs1660219224
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.45
- MetaLR 0.51
- MetaSVM -0.56
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available