L12F (p.Leu12Phe) variant of SPINK5 (Q9NQ38)
L12F (p.Leu12Phe) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD 5-148064076-CCTTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 28.50
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available