R8C (p.Arg8Cys) variant of NUDT15 (Q9NV35)
R8C (p.Arg8Cys) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- gnomAD 13-48037768-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.00
- CADD 14.30
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available