S118L (p.Ser118Leu) variant of MYH6 (Myosin-6)
S118L (p.Ser118Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S118L (p.Ser118Leu) variant details
- p.Ser118Leu
- rs1322526035
- ClinGen CA389031251
- ClinVar RCV001360550
- ClinVar RCV001572279
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- CADD 29.20
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)