P13Q (p.Pro13Gln) variant of GATA4 (Transcription factor GATA-4)
P13Q (p.Pro13Gln) in GATA4 (Transcription factor GATA-4) 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, published literature, and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- gnomAD 8-11708350-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.59
- CADD 22.00
- PolyPhen-2 0.88
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available