V11E (p.Val11Glu) variant of CHM (P24386)
V11E (p.Val11Glu) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V11E (p.Val11Glu) variant details
- p.Val11Glu
- ExAC rs748322209
- gnomAD rs748322209
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.87
- MetaLR 0.68
- MetaSVM 0.57
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available