I23N (p.Ile23Asn) variant of ABCA4 (P78363)
I23N (p.Ile23Asn) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I23N (p.Ile23Asn) variant details
- p.Ile23Asn
- 1000Genomes rs201387193
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.48
- MetaLR 0.71
- MetaSVM 0.51
- CADD 25.70
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available