A55S (p.Ala55Ser) variant of MYL2 (P10916)
A55S (p.Ala55Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- rs727504425
- ClinGen CA009898
- ClinVar RCV000489222
- ClinVar RCV001297385
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.45
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)