G105V (p.Gly105Val) variant of GATA5 (Transcription factor GATA-5)
G105V (p.Gly105Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G105V (p.Gly105Val) variant details
- p.Gly105Val
- TOPMed rs1989824600
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.33
- MetaLR 0.91
- MetaSVM 0.34
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available