C23S (p.Cys23Ser) variant of NUDT15 (Q9NV35)
C23S (p.Cys23Ser) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
C23S (p.Cys23Ser) variant details
- p.Cys23Ser
- gnomAD 13-48037813-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0916
- REVEL 0.07
- MetaLR 0.00
- MetaSVM -0.97
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available