G10V (p.Gly10Val) variant of STK11 (Q15831)
G10V (p.Gly10Val) 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; Peutz-Jeghers syndrome. 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.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- rs2080670108
- ClinGen CA402943109
- ClinVar RCV001337492
- Ensembl rs2080670108
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 3.87
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)