K15R (p.Lys15Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
K15R (p.Lys15Arg) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1Y. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- rs869025539
- ClinGen CA352123
- ClinVar RCV000208520
- ClinVar RCV003989503
- Uncertain significance
- Dilated cardiomyopathy 1Y
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.62
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Y)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)