D20A (p.Asp20Ala) variant of MYLK (Q15746)
D20A (p.Asp20Ala) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D20A (p.Asp20Ala) variant details
- p.Asp20Ala
- ExAC rs754336184
- gnomAD rs754336184
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 16.90
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available