H48R (p.His48Arg) variant of SLC22A1 (O15245)
H48R (p.His48Arg) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- Ensembl rs1779947322
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.83
- CADD 22.30
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available