K36R (p.Lys36Arg) variant of MCM5 (P33992)
K36R (p.Lys36Arg) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- ESP rs143243348
- ExAC rs143243348
- TOPMed rs143243348
- gnomAD rs143243348
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.97
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available