P23H (p.Pro23His) variant of GATA4 (Transcription factor GATA-4)
P23H (p.Pro23His) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.49
- MetaLR 0.18
- MetaSVM -0.86
- CADD 21.70
- PolyPhen-2 0.22
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available