D3H (p.Asp3His) variant of MYPN (Myopalladin)
D3H (p.Asp3His) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D3H (p.Asp3His) variant details
- p.Asp3His
- gnomAD 10-68121445-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 27.00
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available