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 available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2108384932
- ClinGen CA355270016
- ClinVar RCV006645517
- Uncertain significance
- PIK3CA related overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- MetaLR 0.33
- MetaSVM -0.29
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.96
- 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)
- Cited in: PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue… (PMID 27631024)