R136C (p.Arg136Cys) variant of MCM6 (Q14566)
R136C (p.Arg136Cys) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data and structural context.
R136C (p.Arg136Cys) variant details
- p.Arg136Cys
- rs189085457
- ClinGen CA1889276
- ClinVar RCV004181247
- 1000Genomes rs189085457
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.10
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available