A3D (p.Ala3Asp) variant of NUDT15 (Q9NV35)
A3D (p.Ala3Asp) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 13-48037754-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.01
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available