S6G (p.Ser6Gly) variant of UNC80 (Protein unc-80 homolog)
S6G (p.Ser6Gly) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- gnomAD 2-209772088-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- MetaLR 0.12
- MetaSVM -0.95
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available