M1043L (p.Met1043Leu) variant of PIK3CA (P42336)
M1043L (p.Met1043Leu) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-capillary malformation-polymicrogyria syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
M1043L (p.Met1043Leu) variant details
- p.Met1043Leu
- rs1057519936
- Ensembl rs1057519936
- ClinGen CA355285817
- ClinVar RCV001808924
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.43
- MetaLR 0.23
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.20
- EVE 0.04
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Likely pathogenic (in MCAP and CRC)
- UniProt: Likely pathogenic (in MCAP and CRC)
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)