G17D (p.Gly17Asp) variant of MCM5 (P33992)
G17D (p.Gly17Asp) in MCM5 (P33992) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD rs1290401825
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available