S4P (p.Ser4Pro) variant of MYH7 (Myosin-7)
S4P (p.Ser4Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; Cardiovascular phenotype. 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.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- rs1416852795
- ClinGen CA389054236
- ClinVar RCV003301215
- ClinVar RCV006472239
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- CADD 14.40
- PolyPhen-2 0.15
- SIFT 0.11
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available