L29F (p.Leu29Phe) variant of ABCA4 (P78363)
L29F (p.Leu29Phe) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- ESP rs146663678
- ExAC rs146663678
- gnomAD rs146663678
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.54
- MetaLR 0.69
- MetaSVM 0.52
- CADD 23.90
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available