A54T (p.Ala54Thr) variant of MYL2 (P10916)
A54T (p.Ala54Thr) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs1171745073
- ClinGen CA386699190
- ClinVar RCV003092373
- ClinVar RCV004736269
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.37
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.44
- CADD 23.20
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)