L29H (p.Leu29His) variant of ABCA4 (P78363)
L29H (p.Leu29His) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L29H (p.Leu29His) variant details
- p.Leu29His
- Ensembl rs886044719
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.75
- AlphaMissense 0.57
- MetaLR 0.80
- MetaSVM 0.79
- CADD 27.10
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available