T68N (p.Thr68Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T68N (p.Thr68Asn) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
T68N (p.Thr68Asn) variant details
- p.Thr68Asn
- gnomAD rs1270699898
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.67
- MetaLR 0.89
- MetaSVM 0.90
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available