N83D (p.Asn83Asp) variant of VCL (Vinculin)
N83D (p.Asn83Asp) in VCL (Vinculin) 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, published literature, and structural context.
N83D (p.Asn83Asp) variant details
- p.Asn83Asp
- gnomAD 10-74070677-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.24
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available