I87N (p.Ile87Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I87N (p.Ile87Asn) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I87N (p.Ile87Asn) variant details
- p.Ile87Asn
- gnomAD 15-34793439-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available