D54D (p.Asp54Asp) variant of SLC22A5 (O76082)
D54D (p.Asp54Asp) in SLC22A5 (O76082) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D54D (p.Asp54Asp) variant details
- p.Asp54Asp
- rs762909506
- gnomAD 5-132370134-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 12.70
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available
- Literature evidence available