D48N (p.Asp48Asn) variant of MYL2 (P10916)
D48N (p.Asp48Asn) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- rs727504405
- ClinGen CA386699292
- NCI-TCGA Cosmic COSV5740
- Uncertain significance
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.57
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM 0.09
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)