P7Q (p.Pro7Gln) variant of NUDT15 (Q9NV35)
P7Q (p.Pro7Gln) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- gnomAD 13-48037766-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.07
- CADD 3.54
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available