V92I (p.Val92Ile) variant of MYLK (Q15746)
V92I (p.Val92Ile) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V92I (p.Val92Ile) variant details
- p.Val92Ile
- rs186240444
- gnomAD 3-123614369-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 7.41
- Most common in the 1KG:ASW population (allele frequency 0.02)
- Structural context available
- Literature evidence available