S5W (p.Ser5Trp) variant of MCM2 (P49736)
S5W (p.Ser5Trp) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S5W (p.Ser5Trp) variant details
- p.Ser5Trp
- gnomAD 3-127599325-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- MetaLR 0.02
- MetaSVM -0.78
- CADD 25.80
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available