D33N (p.Asp33Asn) variant of VCL (Vinculin)
D33N (p.Asp33Asn) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- gnomAD 10-73998304-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.27
- CADD 31.00
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available