D112V (p.Asp112Val) variant of GATA5 (Transcription factor GATA-5)
D112V (p.Asp112Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D112V (p.Asp112Val) variant details
- p.Asp112Val
- gnomAD rs1989823406
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.73
- MetaLR 0.95
- MetaSVM 0.69
- CADD 23.60
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available