T41P (p.Thr41Pro) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
T41P (p.Thr41Pro) 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.
T41P (p.Thr41Pro) variant details
- p.Thr41Pro
- gnomAD 12-113058313-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- MetaLR 0.11
- MetaSVM -0.81
- CADD 23.00
- PolyPhen-2 0.38
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available