L9F (p.Leu9Phe) variant of SPINK5 (Q9NQ38)
L9F (p.Leu9Phe) in SPINK5 (Q9NQ38) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD rs1199937281
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.68
- CADD 22.70
- PolyPhen-2 0.86
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available