L16V (p.Leu16Val) variant of SPINK5 (Q9NQ38)
L16V (p.Leu16Val) in SPINK5 (Q9NQ38) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- 1000Genomes rs370369039
- ExAC rs370369039
- TOPMed rs370369039
- gnomAD rs370369039
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -0.95
- CADD 21.70
- PolyPhen-2 0.14
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available