M1T (p.Met1Thr) variant of ACTC1 (Actin, alpha cardiac muscle 1)
M1T (p.Met1Thr) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs781220417
- ClinGen CA041583
- ClinVar RCV001241829
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.75
- MetaSVM 0.44
- PolyPhen-2 0.02
- MutPred 0.97
- ClinVar: Likely benign (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)