I101T (p.Ile101Thr) variant of ABCA4 (P78363)
I101T (p.Ile101Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I101T (p.Ile101Thr) variant details
- p.Ile101Thr
- gnomAD rs1390936521
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.79
- CADD 26.40
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available