R27H (p.Arg27His) variant of NUDT15 (Q9NV35)
R27H (p.Arg27His) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- gnomAD 13-48037826-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.03
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available