L73V (p.Leu73Val) variant of MCM3 (P25205)
L73V (p.Leu73Val) in MCM3 (P25205) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L73V (p.Leu73Val) variant details
- p.Leu73Val
- ExAC rs762710836
- gnomAD rs762710836
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available