R20H (p.Arg20His) variant of PDE6B (P35913)
R20H (p.Arg20His) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs781251175
- ClinGen CA2793834
- cosmic curated COSV55327
- ClinVar RCV001151130
- Conflicting interpretations
- Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -1.11
- CADD 4.05
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa; Congenital stationary night blindness auto)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)