G18C (p.Gly18Cys) variant of RHO (Rhodopsin)
G18C (p.Gly18Cys) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 3-129528785-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available