R27Q (p.Arg27Gln) variant of MYPN (Myopalladin)
R27Q (p.Arg27Gln) in MYPN (Myopalladin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- cosmic curated COSV10968
- 1000Genomes rs529359915
- ExAC rs529359915
- TOPMed rs529359915
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.12
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available