L16P (p.Leu16Pro) variant of SPINK5 (Q9NQ38)
L16P (p.Leu16Pro) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs1752513374
- gnomAD 5-148064088-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 29.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available