H557Y (p.His557Tyr) variant of PDE6B (P35913)
H557Y (p.His557Tyr) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not provided; Retinitis pigmentosa 40. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
H557Y (p.His557Tyr) variant details
- p.His557Tyr
- rs121918581
- ClinGen CA256720
- NCI-TCGA Cosmic COSV9972
- cosmic curated COSV99727
- Pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 40
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.99
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 40)
- EBI: Pathogenic (in RP40)
- UniProt: Pathogenic (in RP40)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa. (PMID 29472945)
- Cited in: Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis… (PMID 8394174)