K48E (p.Lys48Glu) variant of SPINK5 (Q9NQ38)
K48E (p.Lys48Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- ExAC rs776356775
- TOPMed rs776356775
- gnomAD rs776356775
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.98
- CADD 7.83
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available