E14D (p.Glu14Asp) variant of STK11 (Q15831)
E14D (p.Glu14Asp) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- rs758769888
- ClinGen CA402943205
- ClinVar RCV003187693
- ClinVar RCV006612905
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.06
- AlphaMissense 0.11
- MetaLR 0.14
- MetaSVM -0.78
- CADD 21.80
- PolyPhen-2 0.73
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign (in cervical cancer)
- UniProt: Benign (in cervical cancer)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)