N10T (p.Asn10Thr) variant of GATA4 (Transcription factor GATA-4)
N10T (p.Asn10Thr) 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.
N10T (p.Asn10Thr) variant details
- p.Asn10Thr
- gnomAD 8-11708341-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 0.68
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available