S27T (p.Ser27Thr) variant of MCM2 (P49736)
S27T (p.Ser27Thr) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- gnomAD 3-127599391-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.91
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available