V2L (p.Val2Leu) variant of UNC80 (Protein unc-80 homolog)
V2L (p.Val2Leu) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- gnomAD rs1276122734
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- MetaLR 0.15
- MetaSVM -0.87
- CADD 23.50
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the South Asian population (allele frequency 6.3e-05)