Y1021H (p.Tyr1021His) variant of PIK3CA (P42336)
Y1021H (p.Tyr1021His) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PIK3CA related overgrowth syndrome; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Y1021H (p.Tyr1021His) variant details
- p.Tyr1021His
- rs2108429509
- ClinGen CA355285420
- NCI-TCGA Cosmic COSV5590
- NCI-TCGA Cosmic COSV5591
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.99
- MetaLR 0.57
- MetaSVM 0.17
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; Cowden syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. (PMID 16322209)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)