E2E (p.Glu2Glu) variant of STK11 (Q15831)
E2E (p.Glu2Glu) in STK11 (Q15831) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs1271482574
- gnomAD 19-1206919-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.211
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -1.04
- CADD 6.72
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available