P28H (p.Pro28His) variant of MCM2 (P49736)
P28H (p.Pro28His) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P28H (p.Pro28His) variant details
- p.Pro28His
- gnomAD 3-127599394-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- MetaLR 0.22
- MetaSVM -0.52
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available