P57L (p.Pro57Leu) variant of ABCA4 (P78363)
P57L (p.Pro57Leu) in ABCA4 (P78363) is a missense change. 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.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- ExAC rs754713440
- gnomAD rs754713440
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.87
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available