H90P (p.His90Pro) variant of ACTC1 (Actin, alpha cardiac muscle 1)
H90P (p.His90Pro) 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 and structural context.
H90P (p.His90Pro) variant details
- p.His90Pro
- gnomAD rs1253423096
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.00
- CADD 29.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available