S4T (p.Ser4Thr) variant of GATA4 (Transcription factor GATA-4)
S4T (p.Ser4Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- gnomAD 8-11708323-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.64
- CADD 23.10
- PolyPhen-2 0.68
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available