R54P (p.Arg54Pro) variant of MYH7 (Myosin-7)
R54P (p.Arg54Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- rs397516117
- ClinGen CA389053702
- NCI-TCGA Cosmic COSV6251
- NCI-TCGA Cosmic COSV6252
- Uncertain significance
- Inborn genetic diseases; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.12
- MetaLR 0.60
- MetaSVM 0.29
- PolyPhen-2 0.83
- SIFT 0.05
- EVE 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hypertrophic cardiomyopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)