K72E (p.Lys72Glu) variant of SPINK5 (Q9NQ38)
K72E (p.Lys72Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K72E (p.Lys72Glu) variant details
- p.Lys72Glu
- ExAC rs764931501
- gnomAD rs764931501
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.03
- CADD 11.90
- PolyPhen-2 0.10
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available