G87A (p.Gly87Ala) variant of MYLK (Q15746)
G87A (p.Gly87Ala) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G87A (p.Gly87Ala) variant details
- p.Gly87Ala
- 1000Genomes rs368325180
- ESP rs368325180
- ExAC rs368325180
- TOPMed rs368325180
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.35
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available