L62P (p.Leu62Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L62P (p.Leu62Pro) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- Ensembl rs1566011809
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- AlphaMissense 1.00
- MetaLR 0.48
- MetaSVM 0.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available