P14T (p.Pro14Thr) variant of GATA4 (Transcription factor GATA-4)
P14T (p.Pro14Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 8-11708352-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.41
- CADD 18.00
- PolyPhen-2 0.58
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available