K78E (p.Lys78Glu) variant of SPINK5 (Q9NQ38)
K78E (p.Lys78Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K78E (p.Lys78Glu) variant details
- p.Lys78Glu
- ExAC rs762849019
- TOPMed rs762849019
- gnomAD rs762849019
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -0.97
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available