K567E (p.Lys567Glu) variant of PIK3R1 (P27986)
K567E (p.Lys567Glu) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CLOVES syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
K567E (p.Lys567Glu) variant details
- p.Lys567Glu
- rs1747645807
- ClinGen CA359883057
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57123
- Likely pathogenic
- CLOVES syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 1.00
- MetaLR 0.20
- MetaSVM -0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (CLOVES syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)