K78K (p.Lys78Lys) variant of SPINK5 (Q9NQ38)
K78K (p.Lys78Lys) in SPINK5 (Q9NQ38) is a synonymous 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.
K78K (p.Lys78Lys) variant details
- p.Lys78Lys
- gnomAD 5-148072172-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 0.85
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available