H49Y (p.His49Tyr) variant of SLC22A1 (O15245)
H49Y (p.His49Tyr) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H49Y (p.His49Tyr) variant details
- p.His49Tyr
- gnomAD 6-160122080-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0927
- REVEL 0.10
- CADD 0.62
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available