R34T (p.Arg34Thr) variant of MYH11 (Myosin-11)
R34T (p.Arg34Thr) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R34T (p.Arg34Thr) variant details
- p.Arg34Thr
- rs199654191
- ClinGen CA7923119
- ClinVar RCV000374025
- ClinVar RCV000802770
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.34
- AlphaMissense 0.61
- MetaLR 0.50
- MetaSVM -0.38
- CADD 10.20
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-inte)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)