Q8H (p.Gln8His) variant of STK11 (Q15831)
Q8H (p.Gln8His) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- rs1379630288
- ClinGen CA402943086
- ClinVar RCV000554676
- ClinVar RCV004023776
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.04
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)