E25K (p.Glu25Lys) variant of RHO (Rhodopsin)
E25K (p.Glu25Lys) 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 0.56 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs774425557
- ClinGen CA2607056
- NCI-TCGA Cosmic COSV5621
- NCI-TCGA Cosmic COSV9996
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.49
- AlphaMissense 0.45
- MetaLR 0.20
- MetaSVM -0.39
- CADD 24.80
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available