P26Q (p.Pro26Gln) variant of NUDT15 (Q9NV35)
P26Q (p.Pro26Gln) 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 0.45 / 1. The record also includes population frequency data and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- rs775476759
- ClinGen CA388149928
- ClinVar RCV004270338
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.29
- MetaLR 0.10
- MetaSVM -1.08
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available