T91N (p.Thr91Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T91N (p.Thr91Asn) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T91N (p.Thr91Asn) variant details
- p.Thr91Asn
- rs730880037
- ClinGen CA019720
- ClinVar RCV000157092
- Ensembl rs730880037
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 0.99
- PolyPhen-2 0.51
- EVE 0.77
- MutPred 0.67
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)