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 0.24 / 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 0.244
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.29
- MetaSVM -0.65
- CADD 17.28
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available