I93V (p.Ile93Val) variant of MYLK (Q15746)
I93V (p.Ile93Val) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I93V (p.Ile93Val) variant details
- p.Ile93Val
- Ensembl rs1576848036
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.41
- CADD 19.50
- PolyPhen-2 0.25
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available