S28N (p.Ser28Asn) variant of PDE6B (P35913)
S28N (p.Ser28Asn) in PDE6B (P35913) is a missense change. 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.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD 4-625709-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available