D54E (p.Asp54Glu) variant of ERCC3 (P19447)
D54E (p.Asp54Glu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- Ensembl rs2104782960
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- ESM-1b 0.00
- AlphaMissense 0.97
- Structural context available