F27Y (p.Phe27Tyr) variant of SLC18A2 (Q05940)
F27Y (p.Phe27Tyr) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F27Y (p.Phe27Tyr) variant details
- p.Phe27Tyr
- gnomAD 10-117241773-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available