A103T (p.Ala103Thr) variant of ABCA4 (P78363)
A103T (p.Ala103Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- gnomAD rs1167101620
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.71
- MetaLR 0.87
- MetaSVM 0.88
- CADD 24.00
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available