G31A (p.Gly31Ala) variant of GATA1 (Erythroid transcription factor)
G31A (p.Gly31Ala) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- gnomAD rs1557020022
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.22
- MetaLR 0.75
- MetaSVM -0.01
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available