V24I (p.Val24Ile) variant of MYLK (Q15746)
V24I (p.Val24Ile) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- ExAC rs764755866
- TOPMed rs764755866
- gnomAD rs764755866
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.08
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available