P85S (p.Pro85Ser) variant of ABCA4 (P78363)
P85S (p.Pro85Ser) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- TOPMed rs1662602042
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.78
- MetaLR 0.99
- MetaSVM 0.95
- CADD 23.80
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available