K125R (p.Lys125Arg) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
K125R (p.Lys125Arg) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Macrocephaly-autism syndrome. The record also includes experimental measurements and structural context.
K125R (p.Lys125Arg) variant details
- p.Lys125Arg
- rs2493717541
- ClinGen CA377482293
- ClinVar RCV002466349
- Likely pathogenic
- Macrocephaly-autism syndrome
- Missense
- ClinVar: Likely pathogenic (Macrocephaly-autism syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.534