R27S (p.Arg27Ser) variant of NUDT15 (Q9NV35)
R27S (p.Arg27Ser) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- gnomAD 13-48037825-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.03
- CADD 7.90
- PolyPhen-2 0.14
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available