Y18H (p.Tyr18His) variant of GATA4 (Transcription factor GATA-4)
Y18H (p.Tyr18His) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Y18H (p.Tyr18His) variant details
- p.Tyr18His
- gnomAD rs1184727904
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.71
- MetaLR 0.96
- MetaSVM 1.14
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available