M17K (p.Met17Lys) variant of SLC30A8 (Q8IWU4)
M17K (p.Met17Lys) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
M17K (p.Met17Lys) variant details
- p.Met17Lys
- gnomAD 8-117135377-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.17
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available