H90H (p.His90His) variant of ACTC1 (Actin, alpha cardiac muscle 1)
H90H (p.His90His) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H90H (p.His90His) variant details
- p.His90His
- rs138812333
- gnomAD 15-34793429-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.67
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available