L199V (p.Leu199Val) variant of GATA5 (Transcription factor GATA-5)
L199V (p.Leu199Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital heart defects, multiple types, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
L199V (p.Leu199Val) variant details
- p.Leu199Val
- rs1555896779
- ClinGen CA409555229
- ClinVar RCV000590866
- UniProt VAR 073071
- Pathogenic
- Congenital heart defects, multiple types, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Congenital heart defects, multiple types, 5)
- EBI: Pathogenic (in CHTD5)
- UniProt: Pathogenic (in CHTD5)
- Structural context available
- Cited in: GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. (PMID 22961344)
- Cited in: Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. (PMID 22483626)