K69N (p.Lys69Asn) variant of RPE65 (Retinoid isomerohydrolase)
K69N (p.Lys69Asn) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
K69N (p.Lys69Asn) variant details
- p.Lys69Asn
- ExAC rs774650221
- gnomAD rs774650221
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 0.98
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available