D6H (p.Asp6His) variant of MCM5 (P33992)
D6H (p.Asp6His) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- ExAC rs762908562
- gnomAD rs762908562
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -0.74
- CADD 32.00
- PolyPhen-2 0.60
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available