L31V (p.Leu31Val) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L31V (p.Leu31Val) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- ExAC rs757104501
- gnomAD rs757104501
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- MetaLR 0.12
- MetaSVM -0.94
- CADD 20.10
- SIFT 0.00
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available