A49E (p.Ala49Glu) variant of VCL (Vinculin)
A49E (p.Ala49Glu) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A49E (p.Ala49Glu) variant details
- p.Ala49Glu
- gnomAD 10-73998353-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available