P13L (p.Pro13Leu) variant of GATA4 (Transcription factor GATA-4)
P13L (p.Pro13Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- ExAC rs760824175
- gnomAD rs760824175
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.78
- MetaLR 0.24
- MetaSVM -0.69
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available