I73V (p.Ile73Val) variant of MYLK (Q15746)
I73V (p.Ile73Val) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- TOPMed rs2063228451
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.07
- CADD 9.59
- PolyPhen-2 0.10
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available