A108V (p.Ala108Val) variant of GATA5 (Transcription factor GATA-5)
A108V (p.Ala108Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A108V (p.Ala108Val) variant details
- p.Ala108Val
- TOPMed rs1372855914
- gnomAD rs1372855914
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.19
- MetaLR 0.82
- MetaSVM 0.32
- CADD 10.50
- PolyPhen-2 0.07
- SIFT 0.20
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available