T88I (p.Thr88Ile) variant of MYLK (Q15746)
T88I (p.Thr88Ile) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T88I (p.Thr88Ile) variant details
- p.Thr88Ile
- rs1443900126
- gnomAD 3-123617769-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available