D3V (p.Asp3Val) variant of MYLK (Q15746)
D3V (p.Asp3Val) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- ExAC rs746869917
- gnomAD rs746869917
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.46
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available