I6T (p.Ile6Thr) variant of MYPN (Myopalladin)
I6T (p.Ile6Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs774766927
- ClinGen CA5522205
- cosmic curated COSV62732
- ClinVar RCV000800889
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available