S19G (p.Ser19Gly) variant of MYPN (Myopalladin)
S19G (p.Ser19Gly) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- gnomAD 10-68121493-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.25
- CADD 25.80
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available