I87S (p.Ile87Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I87S (p.Ile87Ser) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
I87S (p.Ile87Ser) variant details
- p.Ile87Ser
- ExAC rs764208251
- gnomAD rs764208251
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.04
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available