M1T (p.Met1Thr) variant of PIK3CA (P42336)
M1T (p.Met1Thr) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PIK3CA related overgrowth syndrome. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2108384932
- ClinGen CA355270016
- ClinVar RCV002470292
- Uncertain significance
- PIK3CA related overgrowth syndrome
- Missense
- ClinVar: Uncertain significance (PIK3CA related overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)