T91I (p.Thr91Ile) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T91I (p.Thr91Ile) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T91I (p.Thr91Ile) variant details
- p.Thr91Ile
- gnomAD 15-34793427-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.87
- MetaLR 0.94
- MetaSVM 1.07
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available