A22G (p.Ala22Gly) variant of MYPN (Myopalladin)
A22G (p.Ala22Gly) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs145142157
- ClinGen CA5522213
- ClinVar RCV000215815
- ClinVar RCV000245230
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.33
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available