P42L (p.Pro42Leu) variant of SLC30A8 (Q8IWU4)
P42L (p.Pro42Leu) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 8-117147007-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.17
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available