V19A (p.Val19Ala) variant of NUDT15 (Q9NV35)
V19A (p.Val19Ala) 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.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD 13-48037802-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.16
- MetaLR 0.05
- MetaSVM -1.09
- CADD 25.20
- PolyPhen-2 0.86
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available