R27P (p.Arg27Pro) variant of MYPN (Myopalladin)
R27P (p.Arg27Pro) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not specified. 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.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- rs529359915
- ClinGen CA5522216
- ClinVar RCV000216739
- ClinVar RCV000655039
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.19
- CADD 19.80
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not specif)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available