R27L (p.Arg27Leu) variant of NUDT15 (Q9NV35)
R27L (p.Arg27Leu) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- ExAC rs763051893
- gnomAD rs763051893
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.03
- CADD 16.00
- PolyPhen-2 0.09
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available