H557R (p.His557Arg) variant of PDE6B (P35913)
H557R (p.His557Arg) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa 40; Rod-cone dystrophy. 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.
H557R (p.His557Arg) variant details
- p.His557Arg
- rs536742386
- ClinGen CA355916903
- ClinVar RCV000787860
- ClinVar RCV000850087
- Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa 40; Rod-cone dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.97
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa 40; Rod-cone dystrophy)
- EBI: Likely pathogenic (in RP40)
- UniProt: Likely pathogenic (in RP40)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)