R61W (p.Arg61Trp) variant of MCM5 (P33992)
R61W (p.Arg61Trp) in MCM5 (P33992) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- 1000Genomes rs118180933
- ESP rs118180933
- ExAC rs118180933
- TOPMed rs118180933
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.37
- MetaLR 0.12
- MetaSVM -0.89
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available