A6V (p.Ala6Val) variant of GATA4 (Transcription factor GATA-4)
A6V (p.Ala6Val) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs199922907
- NCI-TCGA Cosmic COSV5873
- cosmic curated COSV58732
- UniProt VAR 067605
- Uncertain significance
- not provided; Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.77
- MetaLR 0.18
- MetaSVM -0.73
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Atrioventricular septal defect 4)
- EBI: Pathogenic (in VSD1)
- UniProt: Pathogenic (in VSD1)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: GATA4 mutations in 486 Chinese patients with congenital heart disease. (PMID 18672102)
- Cited in: Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. (PMID 21110066)