H103H (p.His103His) variant of ACTC1 (Actin, alpha cardiac muscle 1)
H103H (p.His103His) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H103H (p.His103His) variant details
- p.His103His
- rs769303249
- gnomAD 15-34793390-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.09
- CADD 12.40
- PolyPhen-2 0.61
- EVE 0.37
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available