I9V (p.Ile9Val) variant of MCM5 (P33992)
I9V (p.Ile9Val) in MCM5 (P33992) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- ExAC rs761707670
- TOPMed rs761707670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.95
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available