H14Y (p.His14Tyr) variant of PIK3CA (P42336)
H14Y (p.His14Tyr) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H14Y (p.His14Tyr) variant details
- p.His14Tyr
- rs1576931874
- ClinGen CA355270487
- cosmic curated COSV56031
- ClinVar RCV000805736
- Uncertain significance
- Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.60
- CADD 24.20
- PolyPhen-2 0.62
- SIFT 0.04
- ClinVar: Uncertain significance (Cowden syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)