I87V (p.Ile87Val) variant of ACTC1 (Actin, alpha cardiac muscle 1)
I87V (p.Ile87Val) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- rs1891749269
- ClinVar RCV004588808
- Ensembl rs1891749269
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.20
- MetaLR 0.82
- MetaSVM 0.58
- PolyPhen-2 0.00
- EVE 0.34
- MutPred 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available