Q28K (p.Gln28Lys) variant of RHO (Rhodopsin)
Q28K (p.Gln28Lys) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
Q28K (p.Gln28Lys) variant details
- p.Gln28Lys
- rs2108749182
- ClinGen CA354495572
- ClinVar RCV001928742
- Ensembl rs2108749182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in RP4)
- UniProt: Uncertain significance (in RP4)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available