S84I (p.Ser84Ile) variant of ABCA4 (P78363)
S84I (p.Ser84Ile) 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.
S84I (p.Ser84Ile) variant details
- p.Ser84Ile
- ExAC rs778817150
- gnomAD rs778817150
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.34
- MetaLR 0.85
- MetaSVM 0.54
- CADD 16.70
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available