H49R (p.His49Arg) variant of SLC22A1 (O15245)
H49R (p.His49Arg) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H49R (p.His49Arg) variant details
- p.His49Arg
- ExAC rs770936405
- gnomAD rs770936405
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available