P14L (p.Pro14Leu) variant of MCM2 (P49736)
P14L (p.Pro14Leu) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- ExAC rs771192544
- gnomAD rs771192544
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.87
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available