Q17K (p.Gln17Lys) variant of GATA1 (Erythroid transcription factor)
Q17K (p.Gln17Lys) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q17K (p.Gln17Lys) variant details
- p.Gln17Lys
- gnomAD X-48791158-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- MetaLR 0.79
- MetaSVM 0.10
- CADD 14.80
- PolyPhen-2 0.14
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available