K113Q (p.Lys113Gln) variant of RPE65 (Retinoid isomerohydrolase)
K113Q (p.Lys113Gln) in RPE65 (Retinoid isomerohydrolase) 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.
K113Q (p.Lys113Gln) variant details
- p.Lys113Gln
- ExAC rs776612353
- TOPMed rs776612353
- gnomAD rs776612353
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.80
- MetaLR 0.83
- MetaSVM 0.67
- CADD 28.20
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available