R35S (p.Arg35Ser) variant of UNC80 (Protein unc-80 homolog)
R35S (p.Arg35Ser) in UNC80 (Protein unc-80 homolog) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R35S (p.Arg35Ser) variant details
- p.Arg35Ser
- gnomAD rs574570420
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- MetaLR 0.16
- MetaSVM -0.87
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available