S4N (p.Ser4Asn) variant of PDE6B (P35913)
S4N (p.Ser4Asn) in PDE6B (P35913) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- ESP rs369501371
- ExAC rs369501371
- TOPMed rs369501371
- gnomAD rs369501371
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.91
- CADD 7.97
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available