H48H (p.His48His) variant of SLC22A5 (O76082)
H48H (p.His48His) in SLC22A5 (O76082) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H48H (p.His48His) variant details
- p.His48His
- rs745897099
- gnomAD 5-132370116-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 13.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available