E31A (p.Glu31Ala) variant of MYPN (Myopalladin)
E31A (p.Glu31Ala) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E31A (p.Glu31Ala) variant details
- p.Glu31Ala
- ExAC rs779467038
- gnomAD rs779467038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.27
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available