A61P (p.Ala61Pro) variant of GATA1 (Erythroid transcription factor)
A61P (p.Ala61Pro) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A61P (p.Ala61Pro) variant details
- p.Ala61Pro
- Ensembl rs2062674280
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.58
- MetaLR 0.86
- MetaSVM 0.42
- CADD 23.00
- PolyPhen-2 0.73
- SIFT 0.25
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available