H49P (p.His49Pro) variant of SLC22A1 (O15245)
H49P (p.His49Pro) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H49P (p.His49Pro) variant details
- p.His49Pro
- rs1477152702
- gnomAD 6-160122079-CCACT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 25.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available