P600S (p.Pro600Ser) variant of MYH7 (Myosin-7)
P600S (p.Pro600Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
P600S (p.Pro600Ser) variant details
- p.Pro600Ser
- rs397516123
- ClinGen CA011279
- ClinVar RCV000035749
- Ensembl rs397516123
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.95
- MetaLR 0.81
- MetaSVM 0.76
- PolyPhen-2 0.60
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)