K62E (p.Lys62Glu) variant of SPINK5 (Q9NQ38)
K62E (p.Lys62Glu) in SPINK5 (Q9NQ38) is a missense change. 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.
K62E (p.Lys62Glu) variant details
- p.Lys62Glu
- gnomAD rs1405582913
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.92
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available