A5S (p.Ala5Ser) variant of NUDT15 (Q9NV35)
A5S (p.Ala5Ser) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 13-48037759-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.01
- CADD 11.10
- PolyPhen-2 0.03
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available