E13K (p.Glu13Lys) variant of GATA1 (Erythroid transcription factor)
E13K (p.Glu13Lys) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- cosmic curated COSV64963
- TOPMed rs2062673441
- gnomAD rs2062673441
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- MetaLR 0.87
- MetaSVM 0.79
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available