A50T (p.Ala50Thr) variant of MYPN (Myopalladin)
A50T (p.Ala50Thr) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- gnomAD rs1293891652
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.17
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available