D23V (p.Asp23Val) variant of GATA6 (Transcription factor GATA-6)
D23V (p.Asp23Val) in GATA6 (Transcription factor GATA-6) 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, published literature, and structural context.
D23V (p.Asp23Val) variant details
- p.Asp23Val
- gnomAD 18-22171212-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available