A20V (p.Ala20Val) variant of GATA4 (Transcription factor GATA-4)
A20V (p.Ala20Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- cosmic curated COSV58735
- ExAC rs753775704
- TOPMed rs753775704
- gnomAD rs753775704
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.31
- MetaLR 0.08
- MetaSVM -0.87
- CADD 17.60
- PolyPhen-2 0.15
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available