L70L (p.Leu70Leu) variant of SPINK5 (Q9NQ38)
L70L (p.Leu70Leu) in SPINK5 (Q9NQ38) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L70L (p.Leu70Leu) variant details
- p.Leu70Leu
- gnomAD 5-148070449-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0993
- CADD 2.63
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available