H48Y (p.His48Tyr) variant of SLC22A1 (O15245)
H48Y (p.His48Tyr) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- TOPMed rs1375763941
- gnomAD rs1375763941
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.54
- CADD 20.80
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available