V4A (p.Val4Ala) variant of STK11 (Q15831)
V4A (p.Val4Ala) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs1599914720
- ClinGen CA402942988
- ClinVar RCV001346665
- ClinVar RCV002350638
- Conflicting interpretations
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- AlphaMissense 0.05
- MetaLR 0.06
- MetaSVM -1.01
- CADD 12.40
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)