G10D (p.Gly10Asp) variant of RPE65 (Retinoid isomerohydrolase)
G10D (p.Gly10Asp) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- gnomAD rs1645960075
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.53
- MetaLR 0.82
- MetaSVM 0.62
- CADD 21.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available