E30K (p.Glu30Lys) variant of PDE6B (P35913)
E30K (p.Glu30Lys) in PDE6B (P35913) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa 40. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- Ensembl rs1553801522
- Conflicting interpretations
- not provided; Retinitis pigmentosa 40
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.14
- MetaLR 0.24
- MetaSVM -0.83
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa 40)
- UniProt: Conflicting interpretations
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available