D30E (p.Asp30Glu) variant of HRAS (GTPase HRas)
D30E (p.Asp30Glu) in HRAS (GTPase HRas) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- ExAC rs745489020
- TOPMed rs745489020
- gnomAD rs745489020
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.35
- AlphaMissense 0.35
- MetaLR 0.10
- MetaSVM -1.05
- CADD 1.58
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available