S9F (p.Ser9Phe) variant of MYPN (Myopalladin)
S9F (p.Ser9Phe) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD 10-68121464-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.25
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available