R40T (p.Arg40Thr) variant of MYL2 (P10916)
R40T (p.Arg40Thr) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
R40T (p.Arg40Thr) variant details
- p.Arg40Thr
- rs727503299
- ClinGen CA243563297
- ClinVar RCV001337424
- ClinVar RCV004808017
- Uncertain significance
- Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM 0.39
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy)
- 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)