P16S (p.Pro16Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P16S (p.Pro16Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- rs730880573
- ClinGen CA015183
- ClinVar RCV000158175
- ClinVar RCV001352035
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ve)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)