H48Y (p.His48Tyr) variant of SLC22A5 (O76082)
H48Y (p.His48Tyr) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- gnomAD rs1751836131
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.70
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available