L40H (p.Leu40His) variant of VCL (Vinculin)
L40H (p.Leu40His) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L40H (p.Leu40His) variant details
- p.Leu40His
- gnomAD 10-73998326-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available