R17H (p.Arg17His) variant of SLC18A2 (Q05940)
R17H (p.Arg17His) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- Ensembl rs1042543
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available