I36V (p.Ile36Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I36V (p.Ile36Val) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- ExAC rs759988070
- gnomAD rs759988070
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.59
- MetaLR 0.63
- MetaSVM 0.13
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available