P15L (p.Pro15Leu) variant of GATA4 (Transcription factor GATA-4)
P15L (p.Pro15Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- gnomAD 8-11708356-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available