G75R (p.Gly75Arg) variant of RPE65 (Retinoid isomerohydrolase)
G75R (p.Gly75Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G75R (p.Gly75Arg) variant details
- p.Gly75Arg
- rs267598701
- ExAC rs267598701
- gnomAD rs267598701
- NCI-TCGA Cosmic COSV5201
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available