A19P (p.Ala19Pro) variant of SLC30A8 (Q8IWU4)
A19P (p.Ala19Pro) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 8-117135382-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.20
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available