R27W (p.Arg27Trp) variant of MYPN (Myopalladin)
R27W (p.Arg27Trp) 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 0.22 / 1. The record also includes population frequency data and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- ExAC rs754754810
- TOPMed rs754754810
- gnomAD rs754754810
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- CADD 23.70
- PolyPhen-2 0.42
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available