A11T (p.Ala11Thr) variant of MCM2 (P49736)
A11T (p.Ala11Thr) in MCM2 (P49736) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- ExAC rs773331466
- TOPMed rs773331466
- gnomAD rs773331466
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available