S5L (p.Ser5Leu) variant of MCM2 (P49736)
S5L (p.Ser5Leu) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- gnomAD 3-127599325-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.17
- MetaLR 0.01
- MetaSVM -0.66
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available