Q38R (p.Gln38Arg) variant of MYL2 (P10916)
Q38R (p.Gln38Arg) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- rs730880947
- ClinGen CA009842
- ClinVar RCV000158918
- ClinVar RCV006555514
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.79
- MetaLR 0.32
- MetaSVM -0.40
- PolyPhen-2 0.82
- SIFT 0.02
- MutPred 0.50
- ClinVar: Uncertain significance (not provided; 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)