P7R (p.Pro7Arg) variant of NUDT15 (Q9NV35)
P7R (p.Pro7Arg) 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.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- gnomAD 13-48037766-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0823
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.04
- CADD 3.17
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available