W807R (p.Trp807Arg) variant of PDE6B (P35913)
W807R (p.Trp807Arg) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W807R (p.Trp807Arg) variant details
- p.Trp807Arg
- rs121918583
- ClinGen CA256723
- ClinVar RCV000013988
- ClinVar RCV001257886
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. (PMID 10234513)
- Cited in: Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. (PMID 18854872)