I73T (p.Ile73Thr) variant of ABCA4 (P78363)
I73T (p.Ile73Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
I73T (p.Ile73Thr) variant details
- p.Ile73Thr
- TOPMed rs997726534
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.89
- MetaLR 0.96
- MetaSVM 1.10
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available