D23N (p.Asp23Asn) variant of STK11 (Q15831)
D23N (p.Asp23Asn) 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 0.62 / 1. The record also includes published literature and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs2080670686
- ClinGen CA402943442
- ClinVar RCV001991318
- Ensembl rs2080670686
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.82
- MetaLR 0.73
- MetaSVM 0.57
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.14
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)