H306R (p.His306Arg) variant of STK11 (Q15831)
H306R (p.His306Arg) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H306R (p.His306Arg) variant details
- p.His306Arg
- rs1363241574
- ClinGen CA402951329
- ClinVar RCV001318307
- gnomAD rs1363241574
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.84
- CADD 24.00
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)