S22R (p.Ser22Arg) variant of NUDT15 (Q9NV35)
S22R (p.Ser22Arg) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- Ensembl rs1950544125
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.28
- MetaLR 0.03
- MetaSVM -1.02
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available