G15R (p.Gly15Arg) variant of GATA6 (Transcription factor GATA-6)
G15R (p.Gly15Arg) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Monogenic diabetes; not specified; not provided. 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.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs116262672
- ClinGen CA152940
- cosmic curated COSV52525
- ClinVar RCV000117121
- Likely benign
- Monogenic diabetes; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.53
- CADD 27.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely benign (Atrioventricular septal defect 5)
- EBI: Benign (in dbSNP:rs116262672)
- UniProt: Benign (in dbSNP:rs116262672)
- Most common in the 1KG:STU population (allele frequency 0.01)
- Structural context available
- Cited in: GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. (PMID 19666519)
- Cited in: Identification of GATA6 sequence variants in patients with congenital heart defects. (PMID 20581743)