K28T (p.Lys28Thr) variant of MCM5 (P33992)
K28T (p.Lys28Thr) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K28T (p.Lys28Thr) variant details
- p.Lys28Thr
- rs200623346
- ClinGen CA10204901
- ClinVar RCV002952726
- ClinVar RCV004067185
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.56
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available