S13I (p.Ser13Ile) variant of MCM2 (P49736)
S13I (p.Ser13Ile) 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.
S13I (p.Ser13Ile) variant details
- p.Ser13Ile
- gnomAD 3-127599349-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.18
- MetaLR 0.17
- MetaSVM -0.84
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available