N181D (p.Asn181Asp) variant of STK11 (Q15831)
N181D (p.Asn181Asp) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
N181D (p.Asn181Asp) variant details
- p.Asn181Asp
- rs886037926
- ClinGen CA10586375
- ClinVar RCV000240843
- Ensembl rs886037926
- Likely pathogenic
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome)
- EBI: Likely pathogenic (in sporadic cancer)
- UniProt: Likely pathogenic (in sporadic cancer)
- 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)