D76V (p.Asp76Val) variant of MCM5 (P33992)
D76V (p.Asp76Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D76V (p.Asp76Val) variant details
- p.Asp76Val
- rs756691015
- ClinGen CA10204958
- ClinVar RCV002299803
- ExAC rs756691015
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.55
- MetaLR 0.16
- MetaSVM -0.68
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available