M69T (p.Met69Thr) variant of MYL2 (P10916)
M69T (p.Met69Thr) 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; Myopathy, myofibrillar, 12, infantile-onset, wit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
M69T (p.Met69Thr) variant details
- p.Met69Thr
- rs2071674449
- ClinGen CA386698787
- ClinVar RCV001191590
- ClinVar RCV001876239
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, wit
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.91
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infa)
- 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: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)