I40V (p.Ile40Val) variant of ABCA4 (P78363)
I40V (p.Ile40Val) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- rs761112891
- NCI-TCGA Cosmic COSV6467
- ExAC rs761112891
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.19
- MetaLR 0.18
- MetaSVM -0.83
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available