W69C (p.Trp69Cys) variant of MCM5 (P33992)
W69C (p.Trp69Cys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
W69C (p.Trp69Cys) variant details
- p.Trp69Cys
- gnomAD 22-35403246-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.34
- CADD 25.60
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available