N50S (p.Asn50Ser) variant of MCM3 (P25205)
N50S (p.Asn50Ser) in MCM3 (P25205) 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 0.30 / 1. The record also includes population frequency data.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- rs755575995
- ClinGen CA3855274
- ClinVar RCV004072680
- ExAC rs755575995
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00018)