I40N (p.Ile40Asn) variant of ABCA4 (P78363)
I40N (p.Ile40Asn) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I40N (p.Ile40Asn) variant details
- p.Ile40Asn
- ExAC rs772400085
- gnomAD rs772400085
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.62
- MetaLR 0.78
- MetaSVM 0.74
- CADD 26.60
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available