Y62S (p.Tyr62Ser) variant of GATA1 (Erythroid transcription factor)
Y62S (p.Tyr62Ser) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y62S (p.Tyr62Ser) variant details
- p.Tyr62Ser
- ExAC rs782411199
- gnomAD rs782411199
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.66
- MetaLR 0.84
- MetaSVM 0.49
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available