P56L (p.Pro56Leu) variant of GATA5 (Transcription factor GATA-5)
P56L (p.Pro56Leu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- Ensembl rs1555897038
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- MetaLR 0.88
- MetaSVM 0.49
- CADD 22.70
- PolyPhen-2 0.41
- SIFT 0.68
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available