P4L (p.Pro4Leu) variant of GATA1 (Erythroid transcription factor)
P4L (p.Pro4Leu) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD rs1557019997
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.45
- MetaLR 0.81
- MetaSVM 0.59
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available