S46N (p.Ser46Asn) variant of PDE6B (P35913)
S46N (p.Ser46Asn) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- gnomAD 4-625763-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.08
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available