E8K (p.Glu8Lys) variant of MYO15A (Unconventional myosin-XV)
E8K (p.Glu8Lys) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- Ensembl rs2045833823
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.53
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available