C36C (p.Cys36Cys) variant of PDE6B (P35913)
C36C (p.Cys36Cys) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
C36C (p.Cys36Cys) variant details
- p.Cys36Cys
- rs529215515
- gnomAD 4-625734-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.086
- CADD 0.76
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available