V44L (p.Val44Leu) variant of MCM5 (P33992)
V44L (p.Val44Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V44L (p.Val44Leu) variant details
- p.Val44Leu
- gnomAD 22-35400568-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available