G36C (p.Gly36Cys) variant of NUDT15 (Q9NV35)
G36C (p.Gly36Cys) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G36C (p.Gly36Cys) variant details
- p.Gly36Cys
- ExAC rs753319151
- TOPMed rs753319151
- gnomAD rs753319151
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -1.14
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available