P57A (p.Pro57Ala) variant of ABCA4 (P78363)
P57A (p.Pro57Ala) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- ExAC rs778422185
- gnomAD rs778422185
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.74
- MetaLR 0.97
- MetaSVM 1.12
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available