A1035V (p.Ala1035Val) variant of PIK3CA (P42336)
A1035V (p.Ala1035Val) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA related overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
A1035V (p.Ala1035Val) variant details
- p.Ala1035Val
- rs1242945375
- ClinGen CA355285711
- ClinVar RCV001526504
- ClinVar RCV003234076
- Pathogenic
- PIK3CA related overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. (PMID 16322209)
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)