P14A (p.Pro14Ala) variant of MCM2 (P49736)
P14A (p.Pro14Ala) in MCM2 (P49736) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- ExAC rs778688260
- TOPMed rs778688260
- gnomAD rs778688260
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.88
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available