D600N (p.Asp600Asn) variant of PDE6B (P35913)
D600N (p.Asp600Asn) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital stationary night blindness autosomal dominant 2; Retini. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D600N (p.Asp600Asn) variant details
- p.Asp600Asn
- rs764605140
- ClinGen CA2794682
- cosmic curated COSV55324
- ClinVar RCV001382537
- Pathogenic/Likely pathogenic
- not provided; Congenital stationary night blindness autosomal dominant 2; Retini
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.84
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital stationary night blindness autosomal do)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)