Q27E (p.Gln27Glu) variant of SPINK5 (Q9NQ38)
Q27E (p.Gln27Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- gnomAD 5-148065370-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -0.89
- CADD 23.90
- PolyPhen-2 0.12
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available