T54N (p.Thr54Asn) variant of GATA1 (Erythroid transcription factor)
T54N (p.Thr54Asn) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T54N (p.Thr54Asn) variant details
- p.Thr54Asn
- gnomAD X-48791270-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.26
- MetaLR 0.80
- MetaSVM 0.31
- CADD 12.90
- PolyPhen-2 0.19
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available