D230N (p.Asp230Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
D230N (p.Asp230Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of TPM1-related disorder; not provided; Dilated cardiomyopathy 1Y. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
D230N (p.Asp230Asn) variant details
- p.Asp230Asn
- rs199476317
- ClinGen CA018280
- ClinVar RCV000024580
- ClinVar RCV000036354
- Pathogenic
- TPM1-related disorder; not provided; Dilated cardiomyopathy 1Y
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.24
- MetaLR 0.66
- MetaSVM 0.18
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.60
- ClinVar: Pathogenic (TPM1-related disorder; not provided; Dilated cardiomyopathy 1Y)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)