C42F (p.Cys42Phe) variant of MYPN (Myopalladin)
C42F (p.Cys42Phe) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C42F (p.Cys42Phe) variant details
- p.Cys42Phe
- gnomAD 10-68121563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.13
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available