Q21P (p.Gln21Pro) variant of ABCA4 (P78363)
Q21P (p.Gln21Pro) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q21P (p.Gln21Pro) variant details
- p.Gln21Pro
- ExAC rs746232022
- gnomAD rs746232022
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.79
- MetaLR 0.81
- MetaSVM 0.74
- CADD 25.90
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available