E37K (p.Glu37Lys) variant of PDE6B (P35913)
E37K (p.Glu37Lys) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Retinitis pigmentosa; Congenital stationary night blind. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs376908835
- ClinGen CA2793844
- cosmic curated COSV55324
- ClinVar RCV001151132
- Uncertain significance
- Inborn genetic diseases; Retinitis pigmentosa; Congenital stationary night blind
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.93
- CADD 8.52
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases; Retinitis pigmentosa; Congenital statio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)