D41N (p.Asp41Asn) variant of MCM6 (Q14566)
D41N (p.Asp41Asn) 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 0.35 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs376399397
- ClinGen CA1889368
- ClinVar RCV004262389
- ExAC rs376399397
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available