V2A (p.Val2Ala) variant of UNC80 (Protein unc-80 homolog)
V2A (p.Val2Ala) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD 2-209772077-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- MetaLR 0.12
- MetaSVM -1.03
- CADD 23.10
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Literature evidence available