D20V (p.Asp20Val) variant of GATA1 (Erythroid transcription factor)
D20V (p.Asp20Val) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D20V (p.Asp20Val) variant details
- p.Asp20Val
- cosmic curated COSV64961
- Ensembl rs2062673605
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.73
- MetaLR 0.84
- MetaSVM 0.70
- CADD 22.50
- PolyPhen-2 0.42
- SIFT 0.01
- Population evidence available
- Structural context available