S35R (p.Ser35Arg) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
S35R (p.Ser35Arg) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- gnomAD 12-113058297-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.50
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available