L45P (p.Leu45Pro) variant of SLC30A8 (Q8IWU4)
L45P (p.Leu45Pro) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- gnomAD 8-117147016-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0974
- REVEL 0.07
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available