M7V (p.Met7Val) variant of GATA4 (Transcription factor GATA-4)
M7V (p.Met7Val) 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 Atrioventricular septal defect 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M7V (p.Met7Val) variant details
- p.Met7Val
- rs899023750
- ClinGen CA172074370
- cosmic curated COSV10063
- ClinVar RCV001050156
- Uncertain significance
- Atrioventricular septal defect 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.77
- MetaLR 0.91
- MetaSVM 0.97
- CADD 23.40
- PolyPhen-2 0.89
- SIFT 0.12
- ClinVar: Uncertain significance (Atrioventricular septal defect 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available