V47I (p.Val47Ile) variant of MYH6 (Myosin-6)
V47I (p.Val47Ile) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- Ensembl rs1891812147
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.26
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available