L39P (p.Leu39Pro) variant of MCM5 (P33992)
L39P (p.Leu39Pro) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- gnomAD rs1932012110
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.63
- MetaLR 0.14
- MetaSVM -0.82
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available