V29L (p.Val29Leu) variant of NUDT15 (Q9NV35)
V29L (p.Val29Leu) in NUDT15 (Q9NV35) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- ExAC rs762270086
- TOPMed rs762270086
- gnomAD rs762270086
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -1.11
- CADD 23.60
- PolyPhen-2 0.73
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available