D18V (p.Asp18Val) variant of MCM5 (P33992)
D18V (p.Asp18Val) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- ExAC rs753315401
- TOPMed rs753315401
- gnomAD rs753315401
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.87
- CADD 25.20
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available