D30E (p.Asp30Glu) variant of RAD51D (O75771)
D30E (p.Asp30Glu) in RAD51D (O75771) 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 0.26 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- ESP rs374725981
- ExAC rs374725981
- TOPMed rs374725981
- gnomAD rs374725981
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.19
- CADD 25.40
- PolyPhen-2 0.90
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available