I93T (p.Ile93Thr) variant of ABCA4 (P78363)
I93T (p.Ile93Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I93T (p.Ile93Thr) variant details
- p.Ile93Thr
- gnomAD rs1386926864
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- MetaLR 0.72
- MetaSVM 0.15
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available