S19R (p.Ser19Arg) variant of MYPN (Myopalladin)
S19R (p.Ser19Arg) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- ExAC rs753909344
- gnomAD rs753909344
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available