R17S (p.Arg17Ser) variant of MYPN (Myopalladin)
R17S (p.Arg17Ser) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD 10-68106180-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 15.50
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available