P14T (p.Pro14Thr) variant of GATA1 (Erythroid transcription factor)
P14T (p.Pro14Thr) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- ExAC rs782038466
- gnomAD rs782038466
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.32
- MetaLR 0.85
- MetaSVM 0.42
- CADD 9.78
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available