A95D (p.Ala95Asp) variant of MYLK (Q15746)
A95D (p.Ala95Asp) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A95D (p.Ala95Asp) variant details
- p.Ala95Asp
- cosmic curated COSV60607
- gnomAD rs2063225109
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.11
- CADD 15.50
- PolyPhen-2 0.28
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available