P105L (p.Pro105Leu) variant of MCM6 (Q14566)
P105L (p.Pro105Leu) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar, EBI, 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 0.47 / 1. The record also includes population frequency data and structural context.
P105L (p.Pro105Leu) variant details
- p.Pro105Leu
- rs1291101798
- ClinGen CA348603402
- ClinVar RCV004121477
- gnomAD rs1291101798
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available