R38C (p.Arg38Cys) variant of PIK3CA (P42336)
R38C (p.Arg38Cys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs749415085
- ClinGen CA2710497
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55874
- Uncertain significance
- not provided; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.74
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cowden syndrome)
- EBI: Likely pathogenic (in CRC)
- UniProt: Likely pathogenic (in CRC)
- Population evidence available
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)