S129T (p.Ser129Thr) variant of MCM6 (Q14566)
S129T (p.Ser129Thr) in MCM6 (Q14566) 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 0.23 / 1. The record also includes population frequency data and structural context.
S129T (p.Ser129Thr) variant details
- p.Ser129Thr
- ExAC rs749796617
- TOPMed rs749796617
- gnomAD rs749796617
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.04
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available