R4S (p.Arg4Ser) variant of UNC80 (Protein unc-80 homolog)
R4S (p.Arg4Ser) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- gnomAD 2-209772084-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- MetaLR 0.09
- MetaSVM -0.98
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available