P87A (p.Pro87Ala) variant of ABCA4 (P78363)
P87A (p.Pro87Ala) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P87A (p.Pro87Ala) variant details
- p.Pro87Ala
- TOPMed rs1452638406
- gnomAD rs1452638406
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- MetaLR 0.88
- MetaSVM 0.71
- CADD 20.80
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available