P14R (p.Pro14Arg) variant of MCM2 (P49736)
P14R (p.Pro14Arg) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- ExAC rs771192544
- gnomAD rs771192544
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.26
- MetaLR 0.18
- MetaSVM -0.87
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available