I40T (p.Ile40Thr) variant of ABCA4 (P78363)
I40T (p.Ile40Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- ExAC rs772400085
- gnomAD rs772400085
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- MetaLR 0.50
- MetaSVM 0.13
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available