D49D (p.Asp49Asp) variant of PDE6B (P35913)
D49D (p.Asp49Asp) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D49D (p.Asp49Asp) variant details
- p.Asp49Asp
- rs1198246370
- gnomAD 4-625773-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 4.60
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available