A55P (p.Ala55Pro) variant of MYL2 (P10916)
A55P (p.Ala55Pro) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A55P (p.Ala55Pro) variant details
- p.Ala55Pro
- rs727504425
- ClinGen CA386699176
- ClinVar RCV000988908
- TOPMed rs727504425
- Likely pathogenic
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.36
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 10)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-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)