I6V (p.Ile6Val) variant of MYPN (Myopalladin)
I6V (p.Ile6Val) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- gnomAD 10-68121454-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.13
- CADD 2.71
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available