S14T (p.Ser14Thr) variant of MCM5 (P33992)
S14T (p.Ser14Thr) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S14T (p.Ser14Thr) variant details
- p.Ser14Thr
- 1000Genomes rs557612451
- TOPMed rs557612451
- gnomAD rs557612451
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available