D48Y (p.Asp48Tyr) variant of MYL2 (P10916)
D48Y (p.Asp48Tyr) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- rs727504405
- ClinGen CA009885
- NCI-TCGA Cosmic COSV5740
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)