E2A (p.Glu2Ala) variant of STK11 (Q15831)
E2A (p.Glu2Ala) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- rs1159551738
- ClinGen CA402942916
- ClinVar RCV000581495
- ClinVar RCV000811637
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malig
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.14
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -0.96
- CADD 24.10
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; Melanoma,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)