Q52K (p.Gln52Lys) variant of SPINK5 (Q9NQ38)
Q52K (p.Gln52Lys) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q52K (p.Gln52Lys) variant details
- p.Gln52Lys
- rs1752706120
- gnomAD 5-148070388-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 13.60
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available