G78V (p.Gly78Val) variant of GATA5 (Transcription factor GATA-5)
G78V (p.Gly78Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G78V (p.Gly78Val) variant details
- p.Gly78Val
- gnomAD rs1555897023
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.50
- MetaLR 0.95
- MetaSVM 1.07
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available