T34N (p.Thr34Asn) variant of MYL2 (P10916)
T34N (p.Thr34Asn) 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 0.44 / 1. The record also includes published literature and structural context.
T34N (p.Thr34Asn) variant details
- p.Thr34Asn
- rs876657894
- ClinGen CA386699562
- ClinVar RCV003051522
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.96
- MetaLR 0.38
- MetaSVM -0.23
- PolyPhen-2 0.71
- SIFT 0.01
- MutPred 0.45
- ClinVar: Uncertain significance (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)