V29I (p.Val29Ile) variant of NUDT15 (Q9NV35)
V29I (p.Val29Ile) in NUDT15 (Q9NV35) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- ExAC rs762270086
- TOPMed rs762270086
- gnomAD rs762270086
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -1.04
- CADD 18.20
- PolyPhen-2 0.19
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available