V32D (p.Val32Asp) variant of GATA1 (Erythroid transcription factor)
V32D (p.Val32Asp) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V32D (p.Val32Asp) variant details
- p.Val32Asp
- TOPMed rs2062673775
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.26
- MetaLR 0.75
- MetaSVM -0.01
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available