I36L (p.Ile36Leu) variant of MYLK (Q15746)
I36L (p.Ile36Leu) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I36L (p.Ile36Leu) variant details
- p.Ile36Leu
- cosmic curated COSV60613
- ExAC rs771936901
- gnomAD rs771936901
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.00
- CADD 18.90
- PolyPhen-2 0.24
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available