P7L (p.Pro7Leu) variant of MCM5 (P33992)
P7L (p.Pro7Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- ExAC rs751342425
- gnomAD rs751342425
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available