A58A (p.Ala58Ala) variant of PDE6B (P35913)
A58A (p.Ala58Ala) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A58A (p.Ala58Ala) variant details
- p.Ala58Ala
- gnomAD 4-625800-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.32
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available