A25T (p.Ala25Thr) variant of GATA4 (Transcription factor GATA-4)
A25T (p.Ala25Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- cosmic curated COSV58736
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- MetaLR 0.85
- MetaSVM 0.45
- CADD 23.20
- PolyPhen-2 0.77
- SIFT 0.29
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available