K71Q (p.Lys71Gln) variant of SLC30A8 (Q8IWU4)
K71Q (p.Lys71Gln) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K71Q (p.Lys71Gln) variant details
- p.Lys71Gln
- gnomAD rs1821935420
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.06
- MetaLR 0.16
- MetaSVM -0.90
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available