A50V (p.Ala50Val) variant of MYPN (Myopalladin)
A50V (p.Ala50Val) in MYPN (Myopalladin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- ExAC rs753497003
- TOPMed rs753497003
- gnomAD rs753497003
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available