G18S (p.Gly18Ser) variant of RHO (Rhodopsin)
G18S (p.Gly18Ser) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- Ensembl rs2108749149
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available