S75G (p.Ser75Gly) variant of MYLK (Q15746)
S75G (p.Ser75Gly) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S75G (p.Ser75Gly) variant details
- p.Ser75Gly
- ExAC rs757326668
- gnomAD rs757326668
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.07
- CADD 8.82
- PolyPhen-2 0.22
- SIFT 0.34
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available