D13G (p.Asp13Gly) variant of MCM5 (P33992)
D13G (p.Asp13Gly) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- rs141005002
- ClinGen CA10204896
- ClinVar RCV002000321
- ClinVar RCV004042422
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- MetaLR 0.14
- MetaSVM -0.95
- CADD 24.00
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available