G84A (p.Gly84Ala) variant of MYLK (Q15746)
G84A (p.Gly84Ala) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- ExAC rs761219750
- gnomAD rs761219750
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.26
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available