P35H (p.Pro35His) variant of GATA1 (Erythroid transcription factor)
P35H (p.Pro35His) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P35H (p.Pro35His) variant details
- p.Pro35His
- gnomAD X-48791213-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.28
- MetaLR 0.81
- MetaSVM 0.35
- CADD 16.00
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available