I23V (p.Ile23Val) variant of ABCA4 (P78363)
I23V (p.Ile23Val) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- ExAC rs756045993
- gnomAD rs756045993
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.85
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available