D68E (p.Asp68Glu) variant of MCM2 (P49736)
D68E (p.Asp68Glu) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- rs3087452
- ClinGen CA2595494
- ClinVar RCV000838302
- ClinVar RCV003975353
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.99
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.76
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs3087452)
- UniProt: Benign (in dbSNP:rs3087452)
- Most common in the HGDP:MOZABITE population (allele frequency 0.12)
- Structural context available
- Literature evidence available