W35R (p.Trp35Arg) variant of RHO (Rhodopsin)
W35R (p.Trp35Arg) 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 0.77 / 1. The record also includes population frequency data and structural context.
W35R (p.Trp35Arg) variant details
- p.Trp35Arg
- rs1259844494
- ClinGen CA354495726
- ClinVar RCV001979172
- TOPMed rs1259844494
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.88
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available